Canonical Allele Identifier: CA368368731

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1255063815
• gnomAD v2: 7-99358585-C-T
• gnomAD v4: 7-99760962-C-T
• COSMIC: COSM5584960
• MyVariant Identifiers: chr7:g.99358585C>T (hg19) ; chr7:g.99760962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760962C>T , CM000669.2:g.99760962C>T	GRCh38
NC_000007.13:g.99358585C>T , CM000669.1:g.99358585C>T	GRCh37
NC_000007.12:g.99196521C>T	NCBI36
NG_008421.1:g.28224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1366G>A	ENSP00000337915.3:p.Asp456Asn
ENST00000651162.1:n.708G>A
ENST00000651514.1:c.1273G>A MANE Select	ENSP00000498939.1:p.Asp425Asn
ENST00000651783.1:c.814G>A	ENSP00000498924.1:p.Asp272Asn
ENST00000652018.1:c.1126G>A	ENSP00000498733.1:p.Asp376Asn
ENST00000336411.6:c.1273G>A	ENSP00000337915.2:p.Asp425Asn
ENST00000354593.6:c.823G>A	ENSP00000346607.2:p.Asp275Asn
NM_001202855.2:c.1270G>A	NP_001189784.1:p.Asp424Asn
NM_017460.5:c.1273G>A	NP_059488.2:p.Asp425Asn
XM_011515841.1:c.1366G>A	XP_011514143.1:p.Asp456Asn
XM_011515842.1:c.1363G>A	XP_011514144.1:p.Asp455Asn
NM_017460.6:c.1273G>A MANE Select	NP_059488.2:p.Asp425Asn
NM_001202855.3:c.1270G>A	NP_001189784.1:p.Asp424Asn