Canonical Allele Identifier: CA368370242

Gene: CYP3A4

Linked Data

• MyVariant Identifiers: chr7:g.99364795C>A (hg19) ; chr7:g.99767172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767172C>A , CM000669.2:g.99767172C>A	GRCh38
NC_000007.13:g.99364795C>A , CM000669.1:g.99364795C>A	GRCh37
NC_000007.12:g.99202731C>A	NCBI36
NG_008421.1:g.22014G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.757G>T	ENSP00000337915.3:p.Val253Leu
ENST00000651162.1:n.192G>T
ENST00000651514.1:c.757G>T MANE Select	ENSP00000498939.1:p.Val253Leu
ENST00000651783.1:c.298G>T	ENSP00000498924.1:p.Val100Leu
ENST00000652018.1:c.610G>T	ENSP00000498733.1:p.Val204Leu
ENST00000336411.6:c.757G>T	ENSP00000337915.2:p.Val253Leu
ENST00000354593.6:c.307G>T	ENSP00000346607.2:p.Val103Leu
NM_001202855.2:c.754G>T	NP_001189784.1:p.Val252Leu
NM_017460.5:c.757G>T	NP_059488.2:p.Val253Leu
XM_011515841.1:c.757G>T	XP_011514143.1:p.Val253Leu
XM_011515842.1:c.754G>T	XP_011514144.1:p.Val252Leu
NM_017460.6:c.757G>T MANE Select	NP_059488.2:p.Val253Leu
NM_001202855.3:c.754G>T	NP_001189784.1:p.Val252Leu