Canonical Allele Identifier: CA4369680

Gene: CYP3A4

Linked Data

• dbSNP Id: rs750958612
• ExAC: 7:99365980 T / C
• gnomAD v4: 7-99768357-T-C
• MyVariant Identifiers: chr7:g.99365980T>C (hg19) ; chr7:g.99768357T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99768357T>C , CM000669.2:g.99768357T>C	GRCh38
NC_000007.13:g.99365980T>C , CM000669.1:g.99365980T>C	GRCh37
NC_000007.12:g.99203916T>C	NCBI36
NG_008421.1:g.20829A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336411.7:c.667A>G	ENSP00000337915.3:p.Ile223Val
ENST00000651514.1:c.667A>G MANE Select	ENSP00000498939.1:p.Ile223Val
ENST00000651783.1:c.208A>G	ENSP00000498924.1:p.Ile70Val
ENST00000652018.1:c.520A>G	ENSP00000498733.1:p.Ile174Val
ENST00000336411.6:c.667A>G	ENSP00000337915.2:p.Ile223Val
ENST00000354593.6:c.217A>G	ENSP00000346607.2:p.Ile73Val
NM_001202855.2:c.667A>G	NP_001189784.1:p.Ile223Val
NM_017460.5:c.667A>G	NP_059488.2:p.Ile223Val
XM_011515841.1:c.667A>G	XP_011514143.1:p.Ile223Val
XM_011515842.1:c.667A>G	XP_011514144.1:p.Ile223Val
NM_017460.6:c.667A>G MANE Select	NP_059488.2:p.Ile223Val
NM_001202855.3:c.667A>G	NP_001189784.1:p.Ile223Val