Canonical Allele Identifier: CA440300703

Gene: ADH1B

Linked Data

• gnomAD v4: 4-99318164-A-G
• MyVariant Identifiers: chr4:g.100239321A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318164A>G , CM000666.2:g.99318164A>G	GRCh38
NC_000004.11:g.100239321A>G , CM000666.1:g.100239321A>G	GRCh37
NC_000004.10:g.100458344A>G	NCBI36
NG_011435.1:g.8252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.141T>C MANE Select	ENSP00000306606.8:p.Cys47=
ENST00000639454.1:c.141T>C	ENSP00000491622.1:p.Cys47=
ENST00000305046.12:c.141T>C	ENSP00000306606.8:p.Cys47=
ENST00000504498.1:n.195T>C
ENST00000506651.5:c.21T>C	ENSP00000425998.2:p.Cys7=
ENST00000515694.4:n.2236T>C
ENST00000625860.2:c.21T>C	ENSP00000486614.1:p.Cys7=
ENST00000632775.1:n.704T>C
NM_000668.5:c.141T>C	NP_000659.2:p.Cys47=
NM_001286650.1:c.21T>C	NP_001273579.1:p.Cys7=
NM_000668.6:c.141T>C MANE Select	NP_000659.2:p.Cys47=
NM_001286650.2:c.21T>C	NP_001273579.1:p.Cys7=