Canonical Allele Identifier: CA101676516
Gene: ADH1C HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99352940G>A
GRCh37 chr4:g.100274097G>A
gnomAD v2:
4:100274097 G / A
gnomAD v3:
4:99352940 G / A
gnomAD v4:
chr4-99352940-G-A
Joint Max Group AF 0.00002212 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002244 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99352940G>A , CM000666.2:g.99352940G>A GRCh38
NC_000004.11:g.100274097G>A , CM000666.1:g.100274097G>A GRCh37
NC_000004.10:g.100493120G>A NCBI36
NG_011718.1:g.4821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000515683.5:c.-265C>T ENSP00000426083.1:n.-265C>T
NM_000669.4:c.-265C>T NP_000660.1:n.-265C>T
NR_133005.1:n.106C>T
XM_011531588.1:c.-265C>T XP_011529890.1:n.-265C>T
XM_011531589.1:c.-505C>T XP_011529891.1:n.-505C>T
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