Canonical Allele Identifier: CA4369651

Gene: CYP3A4

Linked Data

• dbSNP Id: rs369797181
• ExAC: 7:99364806 A / T
• gnomAD v2: 7-99364806-A-T
• gnomAD v3: 7-99767183-A-T
• gnomAD v4: 7-99767183-A-T
• MyVariant Identifiers: chr7:g.99364806A>T (hg19) ; chr7:g.99767183A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767183A>T , CM000669.2:g.99767183A>T	GRCh38
NC_000007.13:g.99364806A>T , CM000669.1:g.99364806A>T	GRCh37
NC_000007.12:g.99202742A>T	NCBI36
NG_008421.1:g.22003T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.746T>A	ENSP00000337915.3:p.Leu249Ter
ENST00000651162.1:n.181T>A
ENST00000651514.1:c.746T>A MANE Select	ENSP00000498939.1:p.Leu249Ter
ENST00000651783.1:c.287T>A	ENSP00000498924.1:p.Leu96Ter
ENST00000652018.1:c.599T>A	ENSP00000498733.1:p.Leu200Ter
ENST00000336411.6:c.746T>A	ENSP00000337915.2:p.Leu249Ter
ENST00000354593.6:c.296T>A	ENSP00000346607.2:p.Leu99Ter
NM_001202855.2:c.743T>A	NP_001189784.1:p.Leu248Ter
NM_017460.5:c.746T>A	NP_059488.2:p.Leu249Ter
XM_011515841.1:c.746T>A	XP_011514143.1:p.Leu249Ter
XM_011515842.1:c.743T>A	XP_011514144.1:p.Leu248Ter
NM_017460.6:c.746T>A MANE Select	NP_059488.2:p.Leu249Ter
NM_001202855.3:c.743T>A	NP_001189784.1:p.Leu248Ter