Canonical Allele Identifier: CA3020048

Gene: ADH1B

Linked Data

• dbSNP Id: rs752597744
• ExAC: 4:100239249 G / A
• gnomAD v2: 4-100239249-G-A
• gnomAD v3: 4-99318092-G-A
• gnomAD v4: 4-99318092-G-A
• COSMIC: COSM4584684
• MyVariant Identifiers: chr4:g.100239249G>A (hg19) ; chr4:g.99318092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318092G>A , CM000666.2:g.99318092G>A	GRCh38
NC_000004.11:g.100239249G>A , CM000666.1:g.100239249G>A	GRCh37
NC_000004.10:g.100458272G>A	NCBI36
NG_011435.1:g.8324C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.213C>T MANE Select	ENSP00000306606.8:p.Ala71=
ENST00000639454.1:c.213C>T	ENSP00000491622.1:p.Ala71=
ENST00000305046.12:c.213C>T	ENSP00000306606.8:p.Ala71=
ENST00000504498.1:n.267C>T
ENST00000506651.5:c.93C>T	ENSP00000425998.2:p.Ala31=
ENST00000515694.4:n.2308C>T
ENST00000625860.2:c.93C>T	ENSP00000486614.1:p.Ala31=
ENST00000632775.1:n.776C>T
NM_000668.5:c.213C>T	NP_000659.2:p.Ala71=
NM_001286650.1:c.93C>T	NP_001273579.1:p.Ala31=
NM_000668.6:c.213C>T MANE Select	NP_000659.2:p.Ala71=
NM_001286650.2:c.93C>T	NP_001273579.1:p.Ala31=