Canonical Allele Identifier: CA357479468

Gene: ADH1B

Linked Data

• gnomAD v4: 4-99318145-C-T
• MyVariant Identifiers: chr4:g.100239302C>T (hg19) ; chr4:g.99318145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318145C>T , CM000666.2:g.99318145C>T	GRCh38
NC_000004.11:g.100239302C>T , CM000666.1:g.100239302C>T	GRCh37
NC_000004.10:g.100458325C>T	NCBI36
NG_011435.1:g.8271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.160G>A MANE Select	ENSP00000306606.8:p.Val54Ile
ENST00000639454.1:c.160G>A	ENSP00000491622.1:p.Val54Ile
ENST00000305046.12:c.160G>A	ENSP00000306606.8:p.Val54Ile
ENST00000504498.1:n.214G>A
ENST00000506651.5:c.40G>A	ENSP00000425998.2:p.Val14Ile
ENST00000515694.4:n.2255G>A
ENST00000625860.2:c.40G>A	ENSP00000486614.1:p.Val14Ile
ENST00000632775.1:n.723G>A
NM_000668.5:c.160G>A	NP_000659.2:p.Val54Ile
NM_001286650.1:c.40G>A	NP_001273579.1:p.Val14Ile
NM_000668.6:c.160G>A MANE Select	NP_000659.2:p.Val54Ile
NM_001286650.2:c.40G>A	NP_001273579.1:p.Val14Ile