CYP3A4 allele nomenclature

Allele	Protein	Nucleotide changes		Trivial name	Effect	Enzyme activity		References
		cDNA	Gene			In vivo	In vitro
CYP3A4*1A	CYP3A4.1	None	None	Wild-type		Normal	Normal	Gonzalez et al, 1988
CYP3A4*1B	CYP3A4.1		-392A>G	CYP3A4-V				Rebbeck et al, 1998 Westlind et al, 1999
CYP3A4*1C	CYP3A4.1		-444T>G					Kuehl el al, 2001
CYP3A4*1D	CYP3A4.1		-62C>A					Kuehl el al, 2001
CYP3A4*1E	CYP3A4.1		-369T>A					Hamzeiy et al, 2002
CYP3A4*1F	CYP3A4.1		-747C>G					Hamzeiy et al, 2002
CYP3A4*1G	CYP3A4.1		20230G>A					Fukushima-Uesaka et al, 2004
CYP3A4*1H	CYP3A4.1		20230G>A; 26206C>A					Fukushima-Uesaka et al, 2004
CYP3A4*1J	CYP3A4.1		6077A>G					Fukushima-Uesaka et al, 2004
CYP3A4*1K	CYP3A4.1		-655A>G					Fukushima-Uesaka et al, 2004
CYP3A4*1L	CYP3A4.1		-630A>G					Fukushima-Uesaka et al, 2004
CYP3A4*1M	CYP3A4.1		-156C>A					Fukushima-Uesaka et al, 2004
CYP3A4*1N	CYP3A4.1		14200T>G					Fukushima-Uesaka et al, 2004
CYP3A4*1P	CYP3A4.1		15727G>A					Fukushima-Uesaka et al, 2004
CYP3A4*1Q	CYP3A4.1		15809T>C					Fukushima-Uesaka et al, 2004
CYP3A4*1R	CYP3A4.1		16775A>G					Fukushima-Uesaka et al, 2004
CYP3A4*1S	CYP3A4.1		17815_17816delAT					Fukushima-Uesaka et al, 2004
CYP3A4*1T	CYP3A4.1		26013T>C					Fukushima-Uesaka et al, 2004
CYP3A4*2	CYP3A4.2	664T>C	15713T>C		S222P			Sata et al, 2000
CYP3A4*3	CYP3A4.3	1334T>C	23171T>C		M445T			Sata et al, 2000
CYP3A4*4	CYP3A4.4	352A>G	13871A>G		I118V			Hsieh et al, 2001
CYP3A4*5	CYP3A4.5	653C>G	15702C>G		P218R			Hsieh et al, 2001
CYP3A4*6		830_831insA	17661_176622insA		277Frameshift			Hsieh et al, 2001
CYP3A4*7	CYP3A4.7	167G>A	6004G>A		G56D			Eiselt et al, 2001
CYP3A4*8	CYP3A4.8	389G>A	13908G>A		R130Q		Decr	Eiselt et al, 2001
CYP3A4*9	CYP3A4.9	508G>A	14292G>A		V170I			Eiselt et al, 2001
CYP3A4*10	CYP3A4.10	520G>C	14304G>C		D174H			Eiselt et al, 2001
CYP3A4*11	CYP3A4.11	1088C>T	21867C>T		T363M		Decr	Eiselt et al, 2001 Murayama et al., 2002
CYP3A4*12	CYP3A4.12	1117C>T	21896C>T		L373F		Decr?	Eiselt et al, 2001
CYP3A4*13	CYP3A4.13	1247C>T	22026C>T		P416L		Decr	Eiselt et al, 2001
CYP3A4*14	CYP3A4.14	44T>C	44 T>C		L15P			Lamba et al, 2002
CYP3A4*15A	CYP3A4.15	485G>A	14269G>A		R162Q			Lamba et al, 2002
CYP3A4*15B	CYP3A4.15	485G>A	-845_-844insATGGAGTGA; -392A>G; 14269G>A		R162Q			Hamzeiy et al, 2002
CYP3A4*16A	CYP3A4.16	554C>G	15603C>G		T185S		Decr	Lamba et al, 2002 Murayama et al., 2002
CYP3A4*16B	CYP3A4.16	554C>G	15603C>G; 20230G>A		T185S		Decr	Fukushima-Uesaka et al, 2004 Murayama et al., 2002
CYP3A4*17	CYP3A4.17	566T>C	15615T>C		F189S		Decr	Dai et al, 2001
CYP3A4*18A	CYP3A4.18	878T>C	20070T>C		L293P	Decr (m)	Incr (t, c, e)	Dai et al, 2001 Kang et al., 2008
CYP3A4*18B	CYP3A4.18	878T>C	20070T>C; 20230G>A		L293P			Fukushima-Uesaka et al, 2004
CYP3A4*19	CYP3A4.19	1399C>T	23237C>T; 20230G>A		P467S			Dai et al, 2001
CYP3A4*20		1461_1462insA	25889_25890insA		488Frameshift		None	Westlind-Johnsson et al., 2006
CYP3A4*21	CYP3A4.21	956A>G	20148A>G		Y319C			Zhou et al., 2011
CYP3A4*22	CYP3A4.1		15389C>T			Decr.		Wang et al., 2011 Elens et al., 2011a Elens et al., 2011b
CYP3A4*23	CYP3A4.23	484C>T	-392A>G; 14268C>T; 15753T>G; 20230G>A; 25721A>G		R162W			Drögemöller et al., 2013
CYP3A4*24	CYP3A4.24	600A>T	-392A>G; 15649A>T; 15753T>G; 20230G>A; 25721A>G		Q200H			Drögemöller et al., 2013
CYP3A4*25								To be released
CYP3A4*26		802C>T	17633C>T		R268Stop		None	Werk et al., 2014
CYP3A4*28	CYP3A4.28		64 C>G; 15977C; 16977C>T					Dai et al
CYP3A4*29	CYP3A4.29		13856T>A					Dai et al
CYP3A4*30	CYP3A4.30		13907C>T; 15977C>T					Dai et al.
CYP3A4*31	CYP3A4.31		20164C>A					Dai et al
CYP3A4*32	CYP3A4.32		20196T>C					Dai et al
CYP3A4*33	CYP3A4.33		21887G>T					Dai et al
CYP3A4*34	CYP3A4.34		15977C>T;23117A>G					Dai et al
Additional SNPs, where the haplotype has not yet been determined
			6152G>A; 15837T>A; 17128T>G; 17186C>T; 17292C>T; 23081C>T; 25853G>A; 26084T>C; 26418C>T; 26530T>C; 26707delT; 26888A>T					Solus et al., 2004
			23197_23198insA		453Frameshift			Solus et al., 2004
			15575T>G		F176V			Suman et al., 2009
			15717T>G		I223R			Suman et al., 2009

c, chlorpyrifos; e, estrone; m, midazolam; t, testosterone

Changes made since the last update () are marked in red.

Allele frequencies: Mizutani, 2003; Solus et al., 2004

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

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 This page was updated 08-Feb 2017 by Magnus Ingelman-Sundberg

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