Canonical Allele Identifier: CA357479120

Gene: ADH1B

Linked Data

• dbSNP Id: rs1278530780
• gnomAD v2: 4-100239235-C-G
• gnomAD v4: 4-99318078-C-G
• MyVariant Identifiers: chr4:g.100239235C>G (hg19) ; chr4:g.99318078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318078C>G , CM000666.2:g.99318078C>G	GRCh38
NC_000004.11:g.100239235C>G , CM000666.1:g.100239235C>G	GRCh37
NC_000004.10:g.100458258C>G	NCBI36
NG_011435.1:g.8338G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.227G>C MANE Select	ENSP00000306606.8:p.Ser76Thr
ENST00000639454.1:c.227G>C	ENSP00000491622.1:p.Ser76Thr
ENST00000305046.12:c.227G>C	ENSP00000306606.8:p.Ser76Thr
ENST00000504498.1:n.281G>C
ENST00000506651.5:c.107G>C	ENSP00000425998.2:p.Ser36Thr
ENST00000515694.4:n.2322G>C
ENST00000625860.2:c.107G>C	ENSP00000486614.1:p.Ser36Thr
ENST00000632775.1:n.790G>C
NM_000668.5:c.227G>C	NP_000659.2:p.Ser76Thr
NM_001286650.1:c.107G>C	NP_001273579.1:p.Ser36Thr
NM_000668.6:c.227G>C MANE Select	NP_000659.2:p.Ser76Thr
NM_001286650.2:c.107G>C	NP_001273579.1:p.Ser36Thr