Canonical Allele Identifier: CA368370264

Gene: CYP3A4

Linked Data

• MyVariant Identifiers: chr7:g.99364805T>A (hg19) ; chr7:g.99767182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767182T>A , CM000669.2:g.99767182T>A	GRCh38
NC_000007.13:g.99364805T>A , CM000669.1:g.99364805T>A	GRCh37
NC_000007.12:g.99202741T>A	NCBI36
NG_008421.1:g.22004A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.747A>T	ENSP00000337915.3:p.Leu249Phe
ENST00000651162.1:n.182A>T
ENST00000651514.1:c.747A>T MANE Select	ENSP00000498939.1:p.Leu249Phe
ENST00000651783.1:c.288A>T	ENSP00000498924.1:p.Leu96Phe
ENST00000652018.1:c.600A>T	ENSP00000498733.1:p.Leu200Phe
ENST00000336411.6:c.747A>T	ENSP00000337915.2:p.Leu249Phe
ENST00000354593.6:c.297A>T	ENSP00000346607.2:p.Leu99Phe
NM_001202855.2:c.744A>T	NP_001189784.1:p.Leu248Phe
NM_017460.5:c.747A>T	NP_059488.2:p.Leu249Phe
XM_011515841.1:c.747A>T	XP_011514143.1:p.Leu249Phe
XM_011515842.1:c.744A>T	XP_011514144.1:p.Leu248Phe
NM_017460.6:c.747A>T MANE Select	NP_059488.2:p.Leu249Phe
NM_001202855.3:c.744A>T	NP_001189784.1:p.Leu248Phe