Canonical Allele Identifier: CA16042081
Gene: APC HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.112707842G>A
GRCh37 chr5:g.112043539G>A
Revel Score:
ENST00000507379 0.140
gnomAD v2:
5:112043539 G / A
gnomAD v3:
5:112707842 G / A
gnomAD v4:
chr5-112707842-G-A
Joint Max Group AF 0.00101934 (AMR)
Genomes Max Group AF 0.00030689 (AMR)
Exomes Max Group AF 0.0012665 (AMR)
ClinVar RCV:
RCV000409742
RCV003892008
ClinVar Variation:
371861
dbSNP:
1057517570
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707842G>A , CM000667.2:g.112707842G>A GRCh38
NC_000005.9:g.112043539G>A , CM000667.1:g.112043539G>A GRCh37
NC_000005.8:g.112071438G>A NCBI36
NG_008481.4:g.20322G>A , LRG_130:g.20322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.125G>A ENSP00000481752.1:p.Gly42Asp
ENST00000507379.6:c.125G>A ENSP00000423224.2:p.Gly42Asp
ENST00000509732.6:c.-19+193G>A ENSP00000426541.2:n.-19+193G>A
ENST00000505350.1:c.125G>A ENSP00000481752.1:p.Gly42Asp
ENST00000507379.5:c.125G>A ENSP00000423224.1:p.Gly42Asp
ENST00000509732.5:c.-19+193G>A ENSP00000426541.1:n.-19+193G>A
NM_001127511.2:c.125G>A NP_001120983.2:p.Gly42Asp
NM_001354895.1:c.-59G>A NP_001341824.1:n.-59G>A
NM_001354897.1:c.125G>A NP_001341826.1:p.Gly42Asp
NM_001354902.1:c.125G>A NP_001341831.1:p.Gly42Asp
NM_001127511.3:c.125G>A NP_001120983.2:p.Gly42Asp
NM_001354895.2:c.-59G>A NP_001341824.1:n.-59G>A
NM_001354897.2:c.125G>A NP_001341826.1:p.Gly42Asp
NM_001354902.2:c.125G>A NP_001341831.1:p.Gly42Asp
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