Canonical Allele Identifier: CA4369647

Gene: CYP3A4

Linked Data

• dbSNP Id: rs374799825
• ExAC: 7:99364773 C / T
• gnomAD v2: 7-99364773-C-T
• gnomAD v3: 7-99767150-C-T
• gnomAD v4: 7-99767150-C-T
• MyVariant Identifiers: chr7:g.99364773C>T (hg19) ; chr7:g.99767150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767150C>T , CM000669.2:g.99767150C>T	GRCh38
NC_000007.13:g.99364773C>T , CM000669.1:g.99364773C>T	GRCh37
NC_000007.12:g.99202709C>T	NCBI36
NG_008421.1:g.22036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.779G>A	ENSP00000337915.3:p.Arg260His
ENST00000651162.1:n.214G>A
ENST00000651514.1:c.779G>A MANE Select	ENSP00000498939.1:p.Arg260His
ENST00000651783.1:c.320G>A	ENSP00000498924.1:p.Arg107His
ENST00000652018.1:c.632G>A	ENSP00000498733.1:p.Arg211His
ENST00000336411.6:c.779G>A	ENSP00000337915.2:p.Arg260His
ENST00000354593.6:c.329G>A	ENSP00000346607.2:p.Arg110His
NM_001202855.2:c.776G>A	NP_001189784.1:p.Arg259His
NM_017460.5:c.779G>A	NP_059488.2:p.Arg260His
XM_011515841.1:c.779G>A	XP_011514143.1:p.Arg260His
XM_011515842.1:c.776G>A	XP_011514144.1:p.Arg259His
NM_017460.6:c.779G>A MANE Select	NP_059488.2:p.Arg260His
NM_001202855.3:c.776G>A	NP_001189784.1:p.Arg259His