Canonical Allele Identifier: CA368372759

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1815579281
• gnomAD v4: 7-99769773-C-A
• MyVariant Identifiers: chr7:g.99367396C>A (hg19) ; chr7:g.99769773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99769773C>A , CM000669.2:g.99769773C>A	GRCh38
NC_000007.13:g.99367396C>A , CM000669.1:g.99367396C>A	GRCh37
NC_000007.12:g.99205332C>A	NCBI36
NG_008421.1:g.19413G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336411.7:c.516G>T	ENSP00000337915.3:p.Leu172Phe
ENST00000651514.1:c.516G>T MANE Select	ENSP00000498939.1:p.Leu172Phe
ENST00000651783.1:c.58-1266G>T	ENSP00000498924.1:n.58-1266G>T
ENST00000652018.1:c.369G>T	ENSP00000498733.1:p.Leu123Phe
ENST00000336411.6:c.516G>T	ENSP00000337915.2:p.Leu172Phe
ENST00000354593.6:c.72-1271G>T	ENSP00000346607.2:n.72-1271G>T
ENST00000480043.1:n.413G>T
NM_001202855.2:c.516G>T	NP_001189784.1:p.Leu172Phe
NM_017460.5:c.516G>T	NP_059488.2:p.Leu172Phe
XM_011515841.1:c.516G>T	XP_011514143.1:p.Leu172Phe
XM_011515842.1:c.516G>T	XP_011514144.1:p.Leu172Phe
NM_017460.6:c.516G>T MANE Select	NP_059488.2:p.Leu172Phe
NM_001202855.3:c.516G>T	NP_001189784.1:p.Leu172Phe