Canonical Allele Identifier: CA4369723

Gene: CYP3A4

Linked Data

• dbSNP Id: rs768000139
• ExAC: 7:99367355 G / C
• gnomAD v2: 7-99367355-G-C
• gnomAD v4: 7-99769732-G-C
• MyVariant Identifiers: chr7:g.99367355G>C (hg19) ; chr7:g.99769732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99769732G>C , CM000669.2:g.99769732G>C	GRCh38
NC_000007.13:g.99367355G>C , CM000669.1:g.99367355G>C	GRCh37
NC_000007.12:g.99205291G>C	NCBI36
NG_008421.1:g.19454C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.521+36C>G	ENSP00000337915.3:n.521+36C>G
ENST00000651514.1:c.521+36C>G MANE Select	ENSP00000498939.1:n.521+36C>G
ENST00000651783.1:c.58-1225C>G	ENSP00000498924.1:n.58-1225C>G
ENST00000652018.1:c.374+36C>G	ENSP00000498733.1:n.374+36C>G
ENST00000336411.6:c.521+36C>G	ENSP00000337915.2:n.521+36C>G
ENST00000354593.6:c.72-1230C>G	ENSP00000346607.2:n.72-1230C>G
ENST00000480043.1:n.454C>G
NM_001202855.2:c.521+36C>G	NP_001189784.1:n.521+36C>G
NM_017460.5:c.521+36C>G	NP_059488.2:n.521+36C>G
XM_011515841.1:c.521+36C>G	XP_011514143.1:n.521+36C>G
XM_011515842.1:c.521+36C>G	XP_011514144.1:n.521+36C>G
NM_017460.6:c.521+36C>G MANE Select	NP_059488.2:n.521+36C>G
NM_001202855.3:c.521+36C>G	NP_001189784.1:n.521+36C>G