Canonical Allele Identifier: CA440300725

Gene: ADH1B

Linked Data

• MyVariant Identifiers: chr4:g.100239336C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318179C>G , CM000666.2:g.99318179C>G	GRCh38
NC_000004.11:g.100239336C>G , CM000666.1:g.100239336C>G	GRCh37
NC_000004.10:g.100458359C>G	NCBI36
NG_011435.1:g.8237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.126G>C MANE Select	ENSP00000306606.8:p.Val42=
ENST00000639454.1:c.126G>C	ENSP00000491622.1:p.Val42=
ENST00000305046.12:c.126G>C	ENSP00000306606.8:p.Val42=
ENST00000504498.1:n.180G>C
ENST00000506651.5:c.6G>C	ENSP00000425998.2:p.Val2=
ENST00000515694.4:n.2221G>C
ENST00000625860.2:c.6G>C	ENSP00000486614.1:p.Val2=
ENST00000632775.1:n.689G>C
NM_000668.5:c.126G>C	NP_000659.2:p.Val42=
NM_001286650.1:c.6G>C	NP_001273579.1:p.Val2=
NM_000668.6:c.126G>C MANE Select	NP_000659.2:p.Val42=
NM_001286650.2:c.6G>C	NP_001273579.1:p.Val2=