Canonical Allele Identifier: CA3020783

Gene: ADH7

Linked Data

• dbSNP Id: rs748837724
• ExAC: 4:100341944 G / T
• gnomAD v2: 4-100341944-G-T
• gnomAD v4: 4-99420787-G-T
• MyVariant Identifiers: chr4:g.100341944G>T (hg19) ; chr4:g.99420787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420787G>T , CM000666.2:g.99420787G>T	GRCh38
NC_000004.11:g.100341944G>T , CM000666.1:g.100341944G>T	GRCh37
NC_000004.10:g.100560967G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.571C>A MANE Select	ENSP00000414254.2:p.Pro191Thr
ENST00000209665.8:c.607C>A	ENSP00000209665.4:p.Pro203Thr
ENST00000437033.6:c.571C>A	ENSP00000414254.2:p.Pro191Thr
ENST00000476959.5:c.631C>A	ENSP00000420269.1:p.Pro211Thr
ENST00000482593.5:c.400C>A	ENSP00000420613.1:p.Pro134Thr
NM_000673.4:c.607C>A	NP_000664.2:p.Pro203Thr
NM_001166504.1:c.631C>A	NP_001159976.1:p.Pro211Thr
NM_000673.7:c.571C>A MANE Select	NP_000664.3:p.Pro191Thr
NM_001166504.2:c.631C>A	NP_001159976.1:p.Pro211Thr