Canonical Allele Identifier: CA11822278
Gene: ADH1C HGNC NCBI
ADH1B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99344800C>A
GRCh37 chr4:g.100265957C>A
gnomAD v2:
4:100265957 C / A
gnomAD v3:
4:99344800 C / A
gnomAD v4:
chr4-99344800-C-A
Joint Max Group AF 0.06850119 (MID)
Genomes Max Group AF 0.06758368 (NFE)
Exomes Max Group AF 0.06764882 (MID)
dbSNP:
283411
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99344800C>A , CM000666.2:g.99344800C>A GRCh38
NC_000004.11:g.100265957C>A , CM000666.1:g.100265957C>A GRCh37
NC_000004.10:g.100484980C>A NCBI36
NG_011718.1:g.12961G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000515683.6:c.567+62G>T (ADH1C) MANE Select ENSP00000426083.1:n.567+62G>T
ENST00000639454.1:c.18+7858G>T (ADH1B) ENSP00000491622.1:n.18+7858G>T
ENST00000510055.5:c.447+62G>T (ADH1C) ENSP00000478439.1:n.447+62G>T
ENST00000511397.3:c.465+62G>T (ADH1C) ENSP00000478545.1:n.465+62G>T
ENST00000515683.5:c.567+62G>T (ADH1C) ENSP00000426083.1:n.567+62G>T
NM_000669.4:c.567+62G>T (ADH1C) NP_000660.1:n.567+62G>T
NR_133005.1:n.937+62G>T (ADH1C)
XM_011531588.1:c.465+62G>T (ADH1C) XP_011529890.1:n.465+62G>T
XM_011531589.1:c.447+62G>T (ADH1C) XP_011529891.1:n.447+62G>T
NM_000669.5:c.567+62G>T (ADH1C) MANE Select NP_000660.1:n.567+62G>T
NR_133005.2:n.638+62G>T (ADH1C)
Search 100 bp 5'
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