Canonical Allele Identifier: CA357495921
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307863-T-C
MyVariant Identifiers: chr4:g.100229020T>C (hg19) chr4:g.99307863T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307863T>C , CM000666.2:g.99307863T>C GRCh38
NC_000004.11:g.100229020T>C , CM000666.1:g.100229020T>C GRCh37
NC_000004.10:g.100448043T>C NCBI36
NG_011435.1:g.18553A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1105A>G MANE Select ENSP00000306606.8:p.Ile369Val
ENST00000639454.1:c.1105A>G ENSP00000491622.1:p.Ile369Val
ENST00000305046.12:c.1105A>G ENSP00000306606.8:p.Ile369Val
ENST00000506651.5:c.985A>G ENSP00000425998.2:p.Ile329Val
ENST00000515694.4:n.3200A>G
ENST00000625860.2:c.985A>G ENSP00000486614.1:p.Ile329Val
NM_000668.5:c.1105A>G NP_000659.2:p.Ile369Val
NM_001286650.1:c.985A>G NP_001273579.1:p.Ile329Val
NM_000668.6:c.1105A>G MANE Select NP_000659.2:p.Ile369Val
NM_001286650.2:c.985A>G NP_001273579.1:p.Ile329Val
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