Canonical Allele Identifier: CA440312032

Gene: ADH1B

Linked Data

• gnomAD v4: 4-99307849-C-T
• MyVariant Identifiers: chr4:g.100229006C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99307849C>T , CM000666.2:g.99307849C>T	GRCh38
NC_000004.11:g.100229006C>T , CM000666.1:g.100229006C>T	GRCh37
NC_000004.10:g.100448029C>T	NCBI36
NG_011435.1:g.18567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.1119G>A MANE Select	ENSP00000306606.8:p.Leu373=
ENST00000639454.1:c.1119G>A	ENSP00000491622.1:p.Leu373=
ENST00000305046.12:c.1119G>A	ENSP00000306606.8:p.Leu373=
ENST00000506651.5:c.999G>A	ENSP00000425998.2:p.Leu333=
ENST00000515694.4:n.3214G>A
ENST00000625860.2:c.999G>A	ENSP00000486614.1:p.Leu333=
NM_000668.5:c.1119G>A	NP_000659.2:p.Leu373=
NM_001286650.1:c.999G>A	NP_001273579.1:p.Leu333=
NM_000668.6:c.1119G>A MANE Select	NP_000659.2:p.Leu373=
NM_001286650.2:c.999G>A	NP_001273579.1:p.Leu333=