CYP2C9 allele nomenclature

Allele	Protein	Nucleotide changes		Effect	Enzyme activity		References
		cDNA	Gene		In_vivo	In_vitro
CYP2C9*1A	CYP2C9.1	None	None		Normal	Normal	Romkes et al., 1991
CYP2C9*1B Predicted haplotype	CYP2C9.1		-2665_-2664delTG, -1188T>C				King et al., 2004
CYP2C9*1C Predicted haplotype	CYP2C9.1		-1188T>C				Shintani et al., 2001 King et al., 2004
CYP2C9*1D Predicted haplotype	CYP2C9.1		-2665_-2664delTG				King et al., 2004
CYP2C9*2A Predicted haplotype	CYP2C9.2	430C>T	-1188T>C; -1096A>G; -620G>T; -485T>A; -484C>A; 3608C>T	R144C		Decr	Rettie et al., 1994 Crespi et al., 1997 Takahashi et al., 2004 Sandberg et al., 2004 King et al., 2004
CYP2C9*2B Predicted haplotype	CYP2C9.2	430C>T	-2665_-2664delTG, -1188T>C; -1096A>G; -620G>T; -485T>A; -484C>A; 3608C>T	R144C		Decr	King et al., 2004
CYP2C9*2C Predicted haplotype	CYP2C9.2	430C>T	-1096A>G; -620G>T; -485T>A; -484C>A; 3608C>T	R144C		Decr	King et al., 2004
CYP2C9*3A Predicted haplotype	CYP2C9.3	1075A>C	-1911T>C; -1885C>G; -1537G>A; -981G>A; 42614A>C	I359L	Decr	Decr	Sullivan-Klose et al., 1996 Haining et al., 1996 Aithal et al., 1999 Kidd et al., 1999 Takanashi et al., 2000 Shintani et al., 2001 King et al., 2004
CYP2C9*3B Predicted haplotype	CYP2C9.3	1075A>C	-1911T>C; -1885C>G; -1537G>A; -1188T>C; -981G>A; 42614A>C	I359L	Decr	Decr	Shintani et al., 2001 King et al., 2004
CYP2C9*4	CYP2C9.4	1076T>C	42615T>C	I359T			Imai et al., 2000
CYP2C9*5	CYP2C9.5	1080C>G	42619C>G	D360E	Decr?	Decr	Dickmann et al., 2001 Allabi et al., 2004 Allabi et al., 2005
CYP2C9*6		818delA	10601delA	273Frame shift	None		Kidd et al., 2001 Allabi et al., 2005
CYP2C9*7	CYP2C9.7	55C>A	55C>A	L19I			Blaisdell et al., 2004
CYP2C9*8	CYP2C9.8	449G>A	3627G>A	R150H	Decr	Incr/Decr	Blaisdell et al., 2004 Allabi et al., 2005 Liu et al., 2012
CYP2C9*9	CYP2C9.9	752A>G	10535A>G	H251R			Blaisdell et al., 2004
CYP2C9*10	CYP2C9.10	815A>G	10598A>G	E272G			Blaisdell et al., 2004
CYP2C9*11A  Predicted haplotype	CYP2C9.11	1003C>T	42542C>T	R335W	Decr	Decr	Higashi et al., 2002 Blaisdell et al., 2004 King et al., 2004 Allabi et al., 2005
CYP2C9*11B Predicted haplotype	CYP2C9.11	1003C>T	-2665_-2664delTG; -1188T>C; 42542C>T	R335W		Decr	King et al., 2004
CYP2C9*12	CYP2C9.12	1465C>T	50338C>T	P489S		Decr	Blaisdell et al., 2004
CYP2C9*13	CYP2C9.13	269T>C	3276T>C	L90P	Decr	Decr	Si et al., 2004 Guo et al., 2005a Guo et al., 2005b
CYP2C9*14	CYP2C9.14	374G>A	3552G>A	R125H		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*15		485C>A	9100C>A (linkage with -1188T>C cannot be excluded)	S162X		None	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*16	CYP2C9.16	895A>G	-1188T>C; 33497A>G	T299A		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*17	CYP2C9.17	1144C>T	42683C>T	P382S			Zhao et al., 2004 Delozier et al., 2005
CYP2C9*18	CYP2C9.18	1075A>C; 1190A>C;  1425A>T	-1911T>C; -1885C>G; -1537G>A; -1188T>C; -981G>A; 42614A>C; 47391A>C; 50298A>T	I359L; D397A		Decr	Zhao et al., 2004 Delozier et al., 2005
CYP2C9*19	CYP2C9.19	1362G>C	-1188T>C; 50235G>C	Q454H			Zhao et al., 2004 Delozier et al., 2005
CYP2C9*20	CYP2C9.20	208G>C	-1188T>C; 3215G>C	G70R			Zhao et al., 2004
CYP2C9*21	CYP2C9.21	89C>T	89C>T	P30L			Veenstra et al., 2005
CYP2C9*22	CYP2C9.22	121A>G	121A>G	N41D			Veenstra et al., 2005
CYP2C9*23	CYP2C9.23	226G>A	3233G>A	V76M			Veenstra et al., 2005
CYP2C9*24	CYP2C9.24	1060G>A  Existence of the CYP2C9*2 polymorphism 430C>T on the same allele cannot be excluded	42599G>A	E354K			Herman et al., 2006
CYP2C9*25		353_362delAGAAATGGAA	3531_3540delAGAAATGGAA	118Frameshift		None	Maekawa et al., 2006
CYP2C9*26 Predicted haplotype	CYP2C9.26	389C>G	-1565C>T; -1188T>C; 3567C>G; 3856G>A; 8763C>T; 9032G>C; 10311A>G; 33349A>G; 50056A>T	T130R		Decr	Maekawa et al., 2006
CYP2C9*27 Predicted haplotype	CYP2C9.27	449G>T	-3089G>A; -2665_-2664delTG; -1188T>C; 3627G>T; 3898C>T; 47639C>T; 50056A>T	R150L			Maekawa et al., 2006
CYP2C9*28	CYP2C9.28	641A>T	9256A>T	Q214L		Decr	Maekawa et al., 2006
CYP2C9*29 Predicted haplotype	CYP2C9.29	835C>A	251T>C; 3411T>C; 33437C>A; 33658A>G; 50056A>T	P279T			Maekawa et al., 2006
CYP2C9*30	CYP2C9.30	1429G>A	50302G>A	A477T		Decr	Maekawa et al., 2006
CYP2C9*31	CYP2C9.31	980T>C	42519T>C	I327T			Matimba et al., 2009
CYP2C9*32	CYP2C9.32	1468G>T	50341G>T	V490F			Matimba et al., 2009
CYP2C9*33	CYP2C9.33	395G>A	3573G>A	R132Q		Decr	Yin et al., 2008
CYP2C9*34	CYP2C9.34	1004G>A	42543G>A	R335Q			Yin et al., 2008
CYP2C9*35	CYP2C9.35	374G>T; 430C>T	3552G>T; 3608C>T	R125L; R144C		None	Ciccacci et al., 2011 Lee et al., 2013

CYP2C9*36	CYP2C9.36	1A>G	1A>G	START1V			Dai et al., 2013
CYP2C9*37	CYP2C9.37	146A>G	146A>G	D49G			Dai et al., 2013
CYP2C9*38	CYP2C9.38	287G>C	3294G>C	G96A			Dai et al., 2013
CYP2C9*39	CYP2C9.39	293G>T	3300G>T	G98V			Dai et al., 2013
CYP2C9*40	CYP2C9.40	329T>C	3336T>C	F110S			Dai et al., 2013
CYP2C9*41	CYP2C9.41	356A>G	3534A>G	K119R			Dai et al., 2013
CYP2C9*42	CYP2C9.42	371G>A	3549G>A	R124Q			Dai et al., 2013
CYP2C9*43	CYP2C9.43	370C>T	3548C>T	R124W			Dai et al., 2013
CYP2C9*44	CYP2C9.44	389C>T	3567C>T	T130M			Dai et al., 2013
CYP2C9*45	CYP2C9.45	394C>T	3572C>T	R132W			Dai et al., 2013
CYP2C9*46	CYP2C9.46	445G>A	3623G>A	A149T			Dai et al., 2013
CYP2C9*47	CYP2C9.47	488C>T	9103C>T	P163L			Dai et al., 2013
CYP2C9*48	CYP2C9.48	620T>C	9235T>C	I207T			Dai et al., 2013
CYP2C9*49	CYP2C9.49	664A>G	10447A>G	I222V			Dai et al., 2013
CYP2C9*50	CYP2C9.50	679C>T	10462C>T	P227S			Dai et al., 2013
CYP2C9*51	CYP2C9.51	850A>G	33452A>G	I284V			Dai et al., 2013
CYP2C9*52	CYP2C9.52	896C>G	33498C>G	T299R			Dai et al., 2013
CYP2C9*53	CYP2C9.53	949C>T	33551C>T	P317S			Dai et al., 2013
CYP2C9*54	CYP2C9.54	1029C>A	42568C>A	S343R			Dai et al., 2013
CYP2C9*55	CYP2C9.55	1081C>A	42620C>A	L361I			Dai et al., 2013
CYP2C9*56	CYP2C9.56	1159A>G	47360A>G	I387V			Dai et al., 2013
CYP2C9*57	CYP2C9.57	610A>C	9225A>C	N204H			Nahar et al., 2013
CYP2C9*58	CYP2C9.58	1009C>A	42548C>A	P337T			Luo et al., 2014
CYP2C9*59	CYP2C9.59	1300A>T	50173A>T	I434F	Decr	Found in an outlier	Dai et al., 2015a
CYP2C9*60	CYP2C9.60	1400T>C	50273T>C	L467P	Decr	Found in an outlier	Dai et al., 2015b

Additional SNPs, where the haplotype has not yet been determined
		96C>G; 251T>C; 2191T>A; 2340G>A; 2638G>T; 2737T>C; 3162G>C; 3235G>A; 3898C>T; 3924T>C; 4033A>G; 4157C>T; 4309A>G; 4628T>A; 4670G>T; 9032G>C; 9069G>A; 10682T>C; 10787G>A; 10814G>T; 33658A>G; 42469T>C; 42726C>T; 47545A>T; 47593T>C; 50053G>A; 50066G>A; 50081G>C; 50434C>T; 50454C>G; 50566A>G; 50658A>G; 50742T>A; 52104C>A; 52175T>C; 52236C>T; 52319G>C; 53194insTGACAT; 53403C>T; 53498delT; 53538G>C; 53557T>C		Solus et al., 2004
		49C>A	L17I	Maekawa et al., 2006
		47439T>C	L413P	Solus et al., 2004
		-8897C>A; -8553C>A; -8422A>G; -8416T>G; -7419A>G; -7336G>A; -5813A>G; -5661C>A; -5146G>C; -5143A>C; -5140A>T; -4877G>A; -4302C>T; -3597A>G; -3579G>A; -3360T>C		Kramer et al., 2008
		50294A>G	N474S	Matimba et al., 2009
	8C>A		S3Y	Goldstein et al., 2009
	1078G>A		D360N	Goldstein et al., 2009
	1253A>C		N418T	Dai et al., 2013

Changes made since the last update (10-Jan-2015) are marked in red.

Allele frequencies: Xie et al., 2001; Mizutani, 2003; Solus et al., 2004; Suarez-Kurtz, 2005

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.

Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

OMIM GeneCards