Canonical Allele Identifier: CA127868
Gene: ADH1C HGNC NCBI
ADH1B HGNC NCBI
COSMIC:
COSN15303906 (not active)
COSN19622552 (not active)
COSN20281068 (not active)
MyVariant.info:
GRCh38 chr4:g.99342808C>T
GRCh37 chr4:g.100263965C>T
gnomAD v2:
4:100263965 C / T
gnomAD v3:
4:99342808 C / T
gnomAD v4:
chr4-99342808-C-T
Joint Max Group AF 0.41237795 (NFE)
Genomes Max Group AF 0.40754431 (NFE)
Exomes Max Group AF 0.41245631 (NFE)
ClinVar RCV:
RCV000019810
ClinVar Variation:
18179
dbSNP:
1693482
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342808C>T , CM000666.2:g.99342808C>T GRCh38
NC_000004.11:g.100263965C>T , CM000666.1:g.100263965C>T GRCh37
NC_000004.10:g.100482988C>T NCBI36
NG_011718.1:g.14953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515683.6:c.815G>A (ADH1C) MANE Select ENSP00000426083.1:p.Arg272Gln
ENST00000639454.1:c.18+9850G>A (ADH1B) ENSP00000491622.1:n.18+9850G>A
ENST00000515683.5:c.815G>A (ADH1C) ENSP00000426083.1:p.Arg272Gln
NM_000669.4:c.815G>A (ADH1C) NP_000660.1:p.Arg272Gln
NR_133005.1:n.1154+31G>A (ADH1C)
XM_011531588.1:c.713G>A (ADH1C) XP_011529890.1:p.Arg238Gln
XM_011531589.1:c.695G>A (ADH1C) XP_011529891.1:p.Arg232Gln
NM_000669.5:c.815G>A (ADH1C) MANE Select NP_000660.1:p.Arg272Gln
NR_133005.2:n.855+31G>A (ADH1C)
Search 100 bp 5'
Search 100 bp 3'