Canonical Allele Identifier: CA357479537

Gene: ADH1B

Linked Data

• dbSNP Id: rs1229984
• gnomAD v3: 4-99318162-T-G
• gnomAD v4: 4-99318162-T-G
• MyVariant Identifiers: chr4:g.100239319T>G (hg19) ; chr4:g.99318162T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318162T>G , CM000666.2:g.99318162T>G	GRCh38
NC_000004.11:g.100239319T>G , CM000666.1:g.100239319T>G	GRCh37
NC_000004.10:g.100458342T>G	NCBI36
NG_011435.1:g.8254A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.143A>C MANE Select	ENSP00000306606.8:p.His48Pro
ENST00000639454.1:c.143A>C	ENSP00000491622.1:p.His48Pro
ENST00000305046.12:c.143A>C	ENSP00000306606.8:p.His48Pro
ENST00000504498.1:n.197A>C
ENST00000506651.5:c.23A>C	ENSP00000425998.2:p.His8Pro
ENST00000515694.4:n.2238A>C
ENST00000625860.2:c.23A>C	ENSP00000486614.1:p.His8Pro
ENST00000632775.1:n.706A>C
NM_000668.5:c.143A>C	NP_000659.2:p.His48Pro
NM_001286650.1:c.23A>C	NP_001273579.1:p.His8Pro
NM_000668.6:c.143A>C MANE Select	NP_000659.2:p.His48Pro
NM_001286650.2:c.23A>C	NP_001273579.1:p.His8Pro