Canonical Allele Identifier: CA102654159

Gene: ADH7

Linked Data

• dbSNP Id: rs868489168
• gnomAD v2: 4-100349670-C-T
• gnomAD v4: 4-99428513-C-T
• COSMIC: COSM1684897 ; COSM1684898
• MyVariant Identifiers: chr4:g.100349670C>T (hg19) ; chr4:g.99428513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99428513C>T , CM000666.2:g.99428513C>T	GRCh38
NC_000004.11:g.100349670C>T , CM000666.1:g.100349670C>T	GRCh37
NC_000004.10:g.100568693C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000437033.7:c.238G>A MANE Select	ENSP00000414254.2:p.Gly80Arg
ENST00000209665.8:c.274G>A	ENSP00000209665.4:p.Gly92Arg
ENST00000437033.6:c.238G>A	ENSP00000414254.2:p.Gly80Arg
ENST00000474027.1:c.67G>A	ENSP00000420300.1:p.Gly23Arg
ENST00000476959.5:c.298G>A	ENSP00000420269.1:p.Gly100Arg
ENST00000482593.5:c.67G>A	ENSP00000420613.1:p.Gly23Arg
NM_000673.4:c.274G>A	NP_000664.2:p.Gly92Arg
NM_001166504.1:c.298G>A	NP_001159976.1:p.Gly100Arg
NM_000673.7:c.238G>A MANE Select	NP_000664.3:p.Gly80Arg
NM_001166504.2:c.298G>A	NP_001159976.1:p.Gly100Arg