Canonical Allele Identifier: CA124924916
Gene: APC HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.112707578C>G
GRCh37 chr5:g.112043275C>G
gnomAD v2:
5:112043275 C / G
gnomAD v3:
5:112707578 C / G
gnomAD v4:
chr5-112707578-C-G
Joint Max Group AF 0.0001115 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00011633 (NFE)
ClinVar RCV:
RCV000762155
RCV002526229
ClinVar Variation:
469839
dbSNP:
775297664
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707578C>G , CM000667.2:g.112707578C>G GRCh38
NC_000005.9:g.112043275C>G , CM000667.1:g.112043275C>G GRCh37
NC_000005.8:g.112071174C>G NCBI36
NG_008481.4:g.20058C>G , LRG_130:g.20058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.-140C>G ENSP00000481752.1:n.-140C>G
ENST00000507379.6:c.-140C>G ENSP00000423224.2:n.-140C>G
ENST00000509732.6:c.-90C>G ENSP00000426541.2:n.-90C>G
ENST00000505350.1:c.-140C>G ENSP00000481752.1:n.-140C>G
ENST00000507379.5:c.-140C>G ENSP00000423224.1:n.-140C>G
ENST00000509732.5:c.-90C>G ENSP00000426541.1:n.-90C>G
NM_001127511.2:c.-140C>G NP_001120983.2:n.-140C>G
NM_001354895.1:c.-323C>G NP_001341824.1:n.-323C>G
NM_001354897.1:c.-140C>G NP_001341826.1:n.-140C>G
NM_001354902.1:c.-140C>G NP_001341831.1:n.-140C>G
NM_001127511.3:c.-140C>G NP_001120983.2:n.-140C>G
NM_001354895.2:c.-323C>G NP_001341824.1:n.-323C>G
NM_001354897.2:c.-140C>G NP_001341826.1:n.-140C>G
NM_001354902.2:c.-140C>G NP_001341831.1:n.-140C>G
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