Canonical Allele Identifier: CA4369506

Gene: CYP3A4

Linked Data

• dbSNP Id: rs748850354
• ExAC: 7:99358574 A / T
• gnomAD v2: 7-99358574-A-T
• gnomAD v3: 7-99760951-A-T
• gnomAD v4: 7-99760951-A-T
• MyVariant Identifiers: chr7:g.99358574A>T (hg19) ; chr7:g.99760951A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760951A>T , CM000669.2:g.99760951A>T	GRCh38
NC_000007.13:g.99358574A>T , CM000669.1:g.99358574A>T	GRCh37
NC_000007.12:g.99196510A>T	NCBI36
NG_008421.1:g.28235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1377T>A	ENSP00000337915.3:p.Asp459Glu
ENST00000651162.1:n.719T>A
ENST00000651514.1:c.1284T>A MANE Select	ENSP00000498939.1:p.Asp428Glu
ENST00000651783.1:c.825T>A	ENSP00000498924.1:p.Asp275Glu
ENST00000652018.1:c.1137T>A	ENSP00000498733.1:p.Asp379Glu
ENST00000336411.6:c.1284T>A	ENSP00000337915.2:p.Asp428Glu
ENST00000354593.6:c.834T>A	ENSP00000346607.2:p.Asp278Glu
NM_001202855.2:c.1281T>A	NP_001189784.1:p.Asp427Glu
NM_017460.5:c.1284T>A	NP_059488.2:p.Asp428Glu
XM_011515841.1:c.1377T>A	XP_011514143.1:p.Asp459Glu
XM_011515842.1:c.1374T>A	XP_011514144.1:p.Asp458Glu
NM_017460.6:c.1284T>A MANE Select	NP_059488.2:p.Asp428Glu
NM_001202855.3:c.1281T>A	NP_001189784.1:p.Asp427Glu