Canonical Allele Identifier: CA357479546

Gene: ADH1B

Linked Data

• MyVariant Identifiers: chr4:g.100239322C>A (hg19) ; chr4:g.99318165C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318165C>A , CM000666.2:g.99318165C>A	GRCh38
NC_000004.11:g.100239322C>A , CM000666.1:g.100239322C>A	GRCh37
NC_000004.10:g.100458345C>A	NCBI36
NG_011435.1:g.8251G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.140G>T MANE Select	ENSP00000306606.8:p.Cys47Phe
ENST00000639454.1:c.140G>T	ENSP00000491622.1:p.Cys47Phe
ENST00000305046.12:c.140G>T	ENSP00000306606.8:p.Cys47Phe
ENST00000504498.1:n.194G>T
ENST00000506651.5:c.20G>T	ENSP00000425998.2:p.Cys7Phe
ENST00000515694.4:n.2235G>T
ENST00000625860.2:c.20G>T	ENSP00000486614.1:p.Cys7Phe
ENST00000632775.1:n.703G>T
NM_000668.5:c.140G>T	NP_000659.2:p.Cys47Phe
NM_001286650.1:c.20G>T	NP_001273579.1:p.Cys7Phe
NM_000668.6:c.140G>T MANE Select	NP_000659.2:p.Cys47Phe
NM_001286650.2:c.20G>T	NP_001273579.1:p.Cys7Phe