ClinGen Allele Registry
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Canonical Allele Identifier:
CA059369
Gene: APC
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.112707788C>T
GRCh37
chr5:g.112043485C>T
Revel Score:
ENST00000507379
0.153
Linked Data - Sequence & Population
gnomAD v2:
5:112043485 C / T
gnomAD v3:
5:112707788 C / T
gnomAD v4:
chr5-112707788-C-T
Joint Max Group AF
0.00015645 (MID)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00016649 (MID)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000410042
RCV002465647
RCV003418089
RCV003535698
ClinVar Variation:
371851
dbSNP:
770241997
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.112707788C>T , CM000667.2:g.112707788C>T
GRCh38
NC_000005.9:g.112043485C>T , CM000667.1:g.112043485C>T
GRCh37
NC_000005.8:g.112071384C>T
NCBI36
NG_008481.4:g.20268C>T , LRG_130:g.20268C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000505350.2:c.71C>T
ENSP00000481752.1:p.Ser24Phe
ENST00000507379.6:c.71C>T
ENSP00000423224.2:p.Ser24Phe
ENST00000509732.6:c.-19+139C>T
ENSP00000426541.2:n.-19+139C>T
ENST00000505350.1:c.71C>T
ENSP00000481752.1:p.Ser24Phe
ENST00000507379.5:c.71C>T
ENSP00000423224.1:p.Ser24Phe
ENST00000509732.5:c.-19+139C>T
ENSP00000426541.1:n.-19+139C>T
NM_001127511.2:c.71C>T
NP_001120983.2:p.Ser24Phe
NM_001354895.1:c.-113C>T
NP_001341824.1:n.-113C>T
NM_001354897.1:c.71C>T
NP_001341826.1:p.Ser24Phe
NM_001354902.1:c.71C>T
NP_001341831.1:p.Ser24Phe
NM_001127511.3:c.71C>T
NP_001120983.2:p.Ser24Phe
NM_001354895.2:c.-113C>T
NP_001341824.1:n.-113C>T
NM_001354897.2:c.71C>T
NP_001341826.1:p.Ser24Phe
NM_001354902.2:c.71C>T
NP_001341831.1:p.Ser24Phe
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