Canonical Allele Identifier: CA124924970
Gene: APC HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.112707590G>C
GRCh37 chr5:g.112043287G>C
gnomAD v2:
5:112043287 G / C
gnomAD v3:
5:112707590 G / C
gnomAD v4:
chr5-112707590-G-C
Joint Max Group AF 0.0005032 (SAS)
Genomes Max Group AF 0.00068437 (SAS)
Exomes Max Group AF 0.00044439 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707590G>C , CM000667.2:g.112707590G>C GRCh38
NC_000005.9:g.112043287G>C , CM000667.1:g.112043287G>C GRCh37
NC_000005.8:g.112071186G>C NCBI36
NG_008481.4:g.20070G>C , LRG_130:g.20070G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.-128G>C ENSP00000481752.1:n.-128G>C
ENST00000507379.6:c.-128G>C ENSP00000423224.2:n.-128G>C
ENST00000509732.6:c.-78G>C ENSP00000426541.2:n.-78G>C
ENST00000505350.1:c.-128G>C ENSP00000481752.1:n.-128G>C
ENST00000507379.5:c.-128G>C ENSP00000423224.1:n.-128G>C
ENST00000509732.5:c.-78G>C ENSP00000426541.1:n.-78G>C
NM_001127511.2:c.-128G>C NP_001120983.2:n.-128G>C
NM_001354895.1:c.-311G>C NP_001341824.1:n.-311G>C
NM_001354897.1:c.-128G>C NP_001341826.1:n.-128G>C
NM_001354902.1:c.-128G>C NP_001341831.1:n.-128G>C
NM_001127511.3:c.-128G>C NP_001120983.2:n.-128G>C
NM_001354895.2:c.-311G>C NP_001341824.1:n.-311G>C
NM_001354897.2:c.-128G>C NP_001341826.1:n.-128G>C
NM_001354902.2:c.-128G>C NP_001341831.1:n.-128G>C
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