Canonical Allele Identifier: CA4369508

Gene: CYP3A4

Linked Data

• dbSNP Id: rs774109750
• ExAC: 7:99358579 T / C
• gnomAD v2: 7-99358579-T-C
• gnomAD v3: 7-99760956-T-C
• gnomAD v4: 7-99760956-T-C
• MyVariant Identifiers: chr7:g.99358579T>C (hg19) ; chr7:g.99760956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760956T>C , CM000669.2:g.99760956T>C	GRCh38
NC_000007.13:g.99358579T>C , CM000669.1:g.99358579T>C	GRCh37
NC_000007.12:g.99196515T>C	NCBI36
NG_008421.1:g.28230A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1372A>G	ENSP00000337915.3:p.Ile458Val
ENST00000651162.1:n.714A>G
ENST00000651514.1:c.1279A>G MANE Select	ENSP00000498939.1:p.Ile427Val
ENST00000651783.1:c.820A>G	ENSP00000498924.1:p.Ile274Val
ENST00000652018.1:c.1132A>G	ENSP00000498733.1:p.Ile378Val
ENST00000336411.6:c.1279A>G	ENSP00000337915.2:p.Ile427Val
ENST00000354593.6:c.829A>G	ENSP00000346607.2:p.Ile277Val
NM_001202855.2:c.1276A>G	NP_001189784.1:p.Ile426Val
NM_017460.5:c.1279A>G	NP_059488.2:p.Ile427Val
XM_011515841.1:c.1372A>G	XP_011514143.1:p.Ile458Val
XM_011515842.1:c.1369A>G	XP_011514144.1:p.Ile457Val
NM_017460.6:c.1279A>G MANE Select	NP_059488.2:p.Ile427Val
NM_001202855.3:c.1276A>G	NP_001189784.1:p.Ile426Val