Canonical Allele Identifier: CA3020062
Gene: ADH1B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99318163G>T
GRCh37 chr4:g.100239320G>T
Revel Score:
ENST00000305046 (MANE Select) 0.083
ENST00000394887 0.083
ENST00000412614 0.083
gnomAD v2:
4:100239320 G / T
gnomAD v3:
4:99318163 G / T
gnomAD v4:
chr4-99318163-G-T
Joint Max Group AF 0.00003472 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318163G>T , CM000666.2:g.99318163G>T GRCh38
NC_000004.11:g.100239320G>T , CM000666.1:g.100239320G>T GRCh37
NC_000004.10:g.100458343G>T NCBI36
NG_011435.1:g.8253C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.142C>A MANE Select ENSP00000306606.8:p.His48Asn
ENST00000639454.1:c.142C>A ENSP00000491622.1:p.His48Asn
ENST00000305046.12:c.142C>A ENSP00000306606.8:p.His48Asn
ENST00000504498.1:n.196C>A
ENST00000506651.5:c.22C>A ENSP00000425998.2:p.His8Asn
ENST00000515694.4:n.2237C>A
ENST00000625860.2:c.22C>A ENSP00000486614.1:p.His8Asn
ENST00000632775.1:n.705C>A
NM_000668.5:c.142C>A NP_000659.2:p.His48Asn
NM_001286650.1:c.22C>A NP_001273579.1:p.His8Asn
NM_000668.6:c.142C>A MANE Select NP_000659.2:p.His48Asn
NM_001286650.2:c.22C>A NP_001273579.1:p.His8Asn
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