Canonical Allele Identifier: CA357479173

Gene: ADH1B

Linked Data

• dbSNP Id: rs1183413755
• gnomAD v2: 4-100239242-C-T
• gnomAD v3: 4-99318085-C-T
• gnomAD v4: 4-99318085-C-T
• COSMIC: COSM158934
• MyVariant Identifiers: chr4:g.100239242C>T (hg19) ; chr4:g.99318085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318085C>T , CM000666.2:g.99318085C>T	GRCh38
NC_000004.11:g.100239242C>T , CM000666.1:g.100239242C>T	GRCh37
NC_000004.10:g.100458265C>T	NCBI36
NG_011435.1:g.8331G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.220G>A MANE Select	ENSP00000306606.8:p.Val74Met
ENST00000639454.1:c.220G>A	ENSP00000491622.1:p.Val74Met
ENST00000305046.12:c.220G>A	ENSP00000306606.8:p.Val74Met
ENST00000504498.1:n.274G>A
ENST00000506651.5:c.100G>A	ENSP00000425998.2:p.Val34Met
ENST00000515694.4:n.2315G>A
ENST00000625860.2:c.100G>A	ENSP00000486614.1:p.Val34Met
ENST00000632775.1:n.783G>A
NM_000668.5:c.220G>A	NP_000659.2:p.Val74Met
NM_001286650.1:c.100G>A	NP_001273579.1:p.Val34Met
NM_000668.6:c.220G>A MANE Select	NP_000659.2:p.Val74Met
NM_001286650.2:c.100G>A	NP_001273579.1:p.Val34Met