Canonical Allele Identifier: CA4369739

Gene: CYP3A4

Linked Data

• dbSNP Id: rs763047916
• ExAC: 7:99367407 G / A
• gnomAD v2: 7-99367407-G-A
• gnomAD v4: 7-99769784-G-A
• MyVariant Identifiers: chr7:g.99367407G>A (hg19) ; chr7:g.99769784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99769784G>A , CM000669.2:g.99769784G>A	GRCh38
NC_000007.13:g.99367407G>A , CM000669.1:g.99367407G>A	GRCh37
NC_000007.12:g.99205343G>A	NCBI36
NG_008421.1:g.19402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.505C>T	ENSP00000337915.3:p.Pro169Ser
ENST00000651514.1:c.505C>T MANE Select	ENSP00000498939.1:p.Pro169Ser
ENST00000651783.1:c.58-1277C>T	ENSP00000498924.1:n.58-1277C>T
ENST00000652018.1:c.358C>T	ENSP00000498733.1:p.Pro120Ser
ENST00000336411.6:c.505C>T	ENSP00000337915.2:p.Pro169Ser
ENST00000354593.6:c.72-1282C>T	ENSP00000346607.2:n.72-1282C>T
ENST00000480043.1:n.402C>T
NM_001202855.2:c.505C>T	NP_001189784.1:p.Pro169Ser
NM_017460.5:c.505C>T	NP_059488.2:p.Pro169Ser
XM_011515841.1:c.505C>T	XP_011514143.1:p.Pro169Ser
XM_011515842.1:c.505C>T	XP_011514144.1:p.Pro169Ser
NM_017460.6:c.505C>T MANE Select	NP_059488.2:p.Pro169Ser
NM_001202855.3:c.505C>T	NP_001189784.1:p.Pro169Ser