Canonical Allele Identifier: CA357489281
Gene: ADH1C HGNC NCBI
ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99342812-C-A
MyVariant Identifiers: chr4:g.100263969C>A (hg19) chr4:g.99342812C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342812C>A , CM000666.2:g.99342812C>A GRCh38
NC_000004.11:g.100263969C>A , CM000666.1:g.100263969C>A GRCh37
NC_000004.10:g.100482992C>A NCBI36
NG_011718.1:g.14949G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.811G>T (ADH1C) MANE Select ENSP00000426083.1:p.Gly271Cys
ENST00000639454.1:c.18+9846G>T (ADH1B) ENSP00000491622.1:n.18+9846G>T
ENST00000515683.5:c.811G>T (ADH1C) ENSP00000426083.1:p.Gly271Cys
NM_000669.4:c.811G>T (ADH1C) NP_000660.1:p.Gly271Cys
NR_133005.1:n.1154+27G>T (ADH1C)
XM_011531588.1:c.709G>T (ADH1C) XP_011529890.1:p.Gly237Cys
XM_011531589.1:c.691G>T (ADH1C) XP_011529891.1:p.Gly231Cys
NM_000669.5:c.811G>T (ADH1C) MANE Select NP_000660.1:p.Gly271Cys
NR_133005.2:n.855+27G>T (ADH1C)
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