Canonical Allele Identifier: CA440300543

Gene: ADH1B

Linked Data

• MyVariant Identifiers: chr4:g.100239219C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318062C>G , CM000666.2:g.99318062C>G	GRCh38
NC_000004.11:g.100239219C>G , CM000666.1:g.100239219C>G	GRCh37
NC_000004.10:g.100458242C>G	NCBI36
NG_011435.1:g.8354G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.243G>C MANE Select	ENSP00000306606.8:p.Val81=
ENST00000639454.1:c.243G>C	ENSP00000491622.1:p.Val81=
ENST00000305046.12:c.243G>C	ENSP00000306606.8:p.Val81=
ENST00000504498.1:n.297G>C
ENST00000506651.5:c.123G>C	ENSP00000425998.2:p.Val41=
ENST00000515694.4:n.2338G>C
ENST00000625860.2:c.123G>C	ENSP00000486614.1:p.Val41=
ENST00000632775.1:n.806G>C
NM_000668.5:c.243G>C	NP_000659.2:p.Val81=
NM_001286650.1:c.123G>C	NP_001273579.1:p.Val41=
NM_000668.6:c.243G>C MANE Select	NP_000659.2:p.Val81=
NM_001286650.2:c.123G>C	NP_001273579.1:p.Val41=