Canonical Allele Identifier: CA4369704

Gene: CYP3A4

Linked Data

• dbSNP Id: rs780943514
• ExAC: 7:99366089 G / C
• gnomAD v2: 7-99366089-G-C
• MyVariant Identifiers: chr7:g.99366089G>C (hg19) ; chr7:g.99768466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99768466G>C , CM000669.2:g.99768466G>C	GRCh38
NC_000007.13:g.99366089G>C , CM000669.1:g.99366089G>C	GRCh37
NC_000007.12:g.99204025G>C	NCBI36
NG_008421.1:g.20720C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336411.7:c.558C>G	ENSP00000337915.3:p.Ser186Arg
ENST00000651514.1:c.558C>G MANE Select	ENSP00000498939.1:p.Ser186Arg
ENST00000651783.1:c.99C>G	ENSP00000498924.1:p.Ser33Arg
ENST00000652018.1:c.411C>G	ENSP00000498733.1:p.Ser137Arg
ENST00000336411.6:c.558C>G	ENSP00000337915.2:p.Ser186Arg
ENST00000354593.6:c.108C>G	ENSP00000346607.2:p.Ser36Arg
NM_001202855.2:c.558C>G	NP_001189784.1:p.Ser186Arg
NM_017460.5:c.558C>G	NP_059488.2:p.Ser186Arg
XM_011515841.1:c.558C>G	XP_011514143.1:p.Ser186Arg
XM_011515842.1:c.558C>G	XP_011514144.1:p.Ser186Arg
NM_017460.6:c.558C>G MANE Select	NP_059488.2:p.Ser186Arg
NM_001202855.3:c.558C>G	NP_001189784.1:p.Ser186Arg