Canonical Allele Identifier: CA440300645

Gene: ADH1B

Linked Data

• gnomAD v4: 4-99318128-C-A
• MyVariant Identifiers: chr4:g.100239285C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318128C>A , CM000666.2:g.99318128C>A	GRCh38
NC_000004.11:g.100239285C>A , CM000666.1:g.100239285C>A	GRCh37
NC_000004.10:g.100458308C>A	NCBI36
NG_011435.1:g.8288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.177G>T MANE Select	ENSP00000306606.8:p.Val59=
ENST00000639454.1:c.177G>T	ENSP00000491622.1:p.Val59=
ENST00000305046.12:c.177G>T	ENSP00000306606.8:p.Val59=
ENST00000504498.1:n.231G>T
ENST00000506651.5:c.57G>T	ENSP00000425998.2:p.Val19=
ENST00000515694.4:n.2272G>T
ENST00000625860.2:c.57G>T	ENSP00000486614.1:p.Val19=
ENST00000632775.1:n.740G>T
NM_000668.5:c.177G>T	NP_000659.2:p.Val59=
NM_001286650.1:c.57G>T	NP_001273579.1:p.Val19=
NM_000668.6:c.177G>T MANE Select	NP_000659.2:p.Val59=
NM_001286650.2:c.57G>T	NP_001273579.1:p.Val19=