Canonical Allele Identifier: CA357495854
Gene: ADH1B HGNC NCBI

Linked Data

COSMIC: COSM394790
MyVariant Identifiers: chr4:g.100228998C>G (hg19) chr4:g.99307841C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307841C>G , CM000666.2:g.99307841C>G GRCh38
NC_000004.11:g.100228998C>G , CM000666.1:g.100228998C>G GRCh37
NC_000004.10:g.100448021C>G NCBI36
NG_011435.1:g.18575G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1127G>C MANE Select ENSP00000306606.8:p.Ter376Ser
ENST00000305046.12:c.1127G>C ENSP00000306606.8:p.Ter376Ser
ENST00000506651.5:c.1007G>C ENSP00000425998.2:p.Ter336Ser
ENST00000515694.4:n.3222G>C
ENST00000625860.2:c.1007G>C ENSP00000486614.1:p.Ter336Ser
NM_000668.5:c.1127G>C NP_000659.2:p.Ter376Ser
NM_001286650.1:c.1007G>C NP_001273579.1:p.Ter336Ser
NM_000668.6:c.1127G>C MANE Select NP_000659.2:p.Ter376Ser
NM_001286650.2:c.1007G>C NP_001273579.1:p.Ter336Ser
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