Canonical Allele Identifier: CA368367684

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1166993796
• gnomAD v2: 7-99358485-C-A
• gnomAD v3: 7-99760862-C-A
• gnomAD v4: 7-99760862-C-A
• MyVariant Identifiers: chr7:g.99358485C>A (hg19) ; chr7:g.99760862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760862C>A , CM000669.2:g.99760862C>A	GRCh38
NC_000007.13:g.99358485C>A , CM000669.1:g.99358485C>A	GRCh37
NC_000007.12:g.99196421C>A	NCBI36
NG_008421.1:g.28324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1466G>T	ENSP00000337915.3:p.Arg489Ile
ENST00000651162.1:n.808G>T
ENST00000651514.1:c.1373G>T MANE Select	ENSP00000498939.1:p.Arg458Ile
ENST00000651783.1:c.914G>T	ENSP00000498924.1:p.Arg305Ile
ENST00000652018.1:c.1226G>T	ENSP00000498733.1:p.Arg409Ile
ENST00000336411.6:c.1373G>T	ENSP00000337915.2:p.Arg458Ile
ENST00000354593.6:c.923G>T	ENSP00000346607.2:p.Arg308Ile
NM_001202855.2:c.1370G>T	NP_001189784.1:p.Arg457Ile
NM_017460.5:c.1373G>T	NP_059488.2:p.Arg458Ile
XM_011515841.1:c.1466G>T	XP_011514143.1:p.Arg489Ile
XM_011515842.1:c.1463G>T	XP_011514144.1:p.Arg488Ile
NM_017460.6:c.1373G>T MANE Select	NP_059488.2:p.Arg458Ile
NM_001202855.3:c.1370G>T	NP_001189784.1:p.Arg457Ile