Canonical Allele Identifier: CA368373443

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1815591535
• gnomAD v3: 7-99770162-G-A
• gnomAD v4: 7-99770162-G-A
• COSMIC: COSM3924333
• MyVariant Identifiers: chr7:g.99367785G>A (hg19) ; chr7:g.99770162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99770162G>A , CM000669.2:g.99770162G>A	GRCh38
NC_000007.13:g.99367785G>A , CM000669.1:g.99367785G>A	GRCh37
NC_000007.12:g.99205721G>A	NCBI36
NG_008421.1:g.19024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.392C>T	ENSP00000337915.3:p.Ser131Leu
ENST00000651514.1:c.392C>T MANE Select	ENSP00000498939.1:p.Ser131Leu
ENST00000651783.1:c.58-1655C>T	ENSP00000498924.1:n.58-1655C>T
ENST00000652018.1:c.245C>T	ENSP00000498733.1:p.Ser82Leu
ENST00000336411.6:c.392C>T	ENSP00000337915.2:p.Ser131Leu
ENST00000354593.6:c.72-1660C>T	ENSP00000346607.2:n.72-1660C>T
ENST00000415003.1:c.431C>T	ENSP00000397208.1:p.Ser144Leu
ENST00000480043.1:n.289C>T
NM_001202855.2:c.392C>T	NP_001189784.1:p.Ser131Leu
NM_017460.5:c.392C>T	NP_059488.2:p.Ser131Leu
XM_011515841.1:c.392C>T	XP_011514143.1:p.Ser131Leu
XM_011515842.1:c.392C>T	XP_011514144.1:p.Ser131Leu
NM_017460.6:c.392C>T MANE Select	NP_059488.2:p.Ser131Leu
NM_001202855.3:c.392C>T	NP_001189784.1:p.Ser131Leu