Canonical Allele Identifier: CA127875
Gene: ADH1B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99307860G>A
GRCh37 chr4:g.100229017G>A
Revel Score:
ENST00000305046 (MANE Select) 0.194
ENST00000394887 0.194
ENST00000412614 0.194
gnomAD v2:
4:100229017 G / A
gnomAD v3:
4:99307860 G / A
gnomAD v4:
chr4-99307860-G-A
Joint Max Group AF 0.1894262 (AFR)
Genomes Max Group AF 0.18472345 (AFR)
Exomes Max Group AF 0.19285591 (AFR)
ClinVar RCV:
RCV000019815
ClinVar Variation:
18183
dbSNP:
2066702
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307860G>A , CM000666.2:g.99307860G>A GRCh38
NC_000004.11:g.100229017G>A , CM000666.1:g.100229017G>A GRCh37
NC_000004.10:g.100448040G>A NCBI36
NG_011435.1:g.18556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1108C>T MANE Select ENSP00000306606.8:p.Arg370Cys
ENST00000639454.1:c.1108C>T ENSP00000491622.1:p.Arg370Cys
ENST00000305046.12:c.1108C>T ENSP00000306606.8:p.Arg370Cys
ENST00000506651.5:c.988C>T ENSP00000425998.2:p.Arg330Cys
ENST00000515694.4:n.3203C>T
ENST00000625860.2:c.988C>T ENSP00000486614.1:p.Arg330Cys
NM_000668.5:c.1108C>T NP_000659.2:p.Arg370Cys
NM_001286650.1:c.988C>T NP_001273579.1:p.Arg330Cys
NM_000668.6:c.1108C>T MANE Select NP_000659.2:p.Arg370Cys
NM_001286650.2:c.988C>T NP_001273579.1:p.Arg330Cys
Search 100 bp 5'
Search 100 bp 3'