Canonical Allele Identifier: CA3020043
Gene: ADH1B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99318070C>T
GRCh37 chr4:g.100239227C>T
Revel Score:
ENST00000305046 (MANE Select) 0.071
ENST00000394887 0.071
ENST00000412614 0.071
gnomAD v2:
4:100239227 C / T
gnomAD v3:
4:99318070 C / T
gnomAD v4:
chr4-99318070-C-T
Joint Max Group AF 0.00001425 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318070C>T , CM000666.2:g.99318070C>T GRCh38
NC_000004.11:g.100239227C>T , CM000666.1:g.100239227C>T GRCh37
NC_000004.10:g.100458250C>T NCBI36
NG_011435.1:g.8346G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.235G>A MANE Select ENSP00000306606.8:p.Glu79Lys
ENST00000639454.1:c.235G>A ENSP00000491622.1:p.Glu79Lys
ENST00000305046.12:c.235G>A ENSP00000306606.8:p.Glu79Lys
ENST00000504498.1:n.289G>A
ENST00000506651.5:c.115G>A ENSP00000425998.2:p.Glu39Lys
ENST00000515694.4:n.2330G>A
ENST00000625860.2:c.115G>A ENSP00000486614.1:p.Glu39Lys
ENST00000632775.1:n.798G>A
NM_000668.5:c.235G>A NP_000659.2:p.Glu79Lys
NM_001286650.1:c.115G>A NP_001273579.1:p.Glu39Lys
NM_000668.6:c.235G>A MANE Select NP_000659.2:p.Glu79Lys
NM_001286650.2:c.115G>A NP_001273579.1:p.Glu39Lys
Search 100 bp 5'
Search 100 bp 3'