Canonical Allele Identifier: CA561890262
Gene: APC HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.112707639G>A
GRCh37 chr5:g.112043336G>A
gnomAD v2:
5:112043336 G / A
gnomAD v3:
5:112707639 G / A
gnomAD v4:
chr5-112707639-G-A
Joint Max Group AF 0.00018628 (EAS)
Genomes Max Group AF 0.0001585 (EAS)
Exomes Max Group AF 0.0001372 (EAS)
ClinVar RCV:
RCV003742641
ClinVar Variation:
469814
dbSNP:
1369181601
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707639G>A , CM000667.2:g.112707639G>A GRCh38
NC_000005.9:g.112043336G>A , CM000667.1:g.112043336G>A GRCh37
NC_000005.8:g.112071235G>A NCBI36
NG_008481.4:g.20119G>A , LRG_130:g.20119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.-79G>A ENSP00000481752.1:n.-79G>A
ENST00000507379.6:c.-79G>A ENSP00000423224.2:n.-79G>A
ENST00000509732.6:c.-29G>A ENSP00000426541.2:n.-29G>A
ENST00000505350.1:c.-79G>A ENSP00000481752.1:n.-79G>A
ENST00000507379.5:c.-79G>A ENSP00000423224.1:n.-79G>A
ENST00000509732.5:c.-29G>A ENSP00000426541.1:n.-29G>A
NM_001127511.2:c.-79G>A NP_001120983.2:n.-79G>A
NM_001354895.1:c.-262G>A NP_001341824.1:n.-262G>A
NM_001354897.1:c.-79G>A NP_001341826.1:n.-79G>A
NM_001354902.1:c.-79G>A NP_001341831.1:n.-79G>A
NM_001127511.3:c.-79G>A NP_001120983.2:n.-79G>A
NM_001354895.2:c.-262G>A NP_001341824.1:n.-262G>A
NM_001354897.2:c.-79G>A NP_001341826.1:n.-79G>A
NM_001354902.2:c.-79G>A NP_001341831.1:n.-79G>A
Search 100 bp 5'
Search 100 bp 3'