Canonical Allele Identifier: CA023283
Gene: APC HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.112707836G>C
GRCh37 chr5:g.112043533G>C
Revel Score:
ENST00000507379 0.110
gnomAD v2:
5:112043533 G / C
gnomAD v3:
5:112707836 G / C
gnomAD v4:
chr5-112707836-G-C
Joint Max Group AF 0.00016778 (NFE)
Genomes Max Group AF 0.00019435 (NFE)
Exomes Max Group AF 0.00016002 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707836G>C , CM000667.2:g.112707836G>C GRCh38
NC_000005.9:g.112043533G>C , CM000667.1:g.112043533G>C GRCh37
NC_000005.8:g.112071432G>C NCBI36
NG_008481.4:g.20316G>C , LRG_130:g.20316G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.119G>C ENSP00000481752.1:p.Ser40Thr
ENST00000507379.6:c.119G>C ENSP00000423224.2:p.Ser40Thr
ENST00000509732.6:c.-19+187G>C ENSP00000426541.2:n.-19+187G>C
ENST00000505350.1:c.119G>C ENSP00000481752.1:p.Ser40Thr
ENST00000507379.5:c.119G>C ENSP00000423224.1:p.Ser40Thr
ENST00000509732.5:c.-19+187G>C ENSP00000426541.1:n.-19+187G>C
NM_001127511.2:c.119G>C NP_001120983.2:p.Ser40Thr
NM_001354895.1:c.-65G>C NP_001341824.1:n.-65G>C
NM_001354897.1:c.119G>C NP_001341826.1:p.Ser40Thr
NM_001354902.1:c.119G>C NP_001341831.1:p.Ser40Thr
NM_001127511.3:c.119G>C NP_001120983.2:p.Ser40Thr
NM_001354895.2:c.-65G>C NP_001341824.1:n.-65G>C
NM_001354897.2:c.119G>C NP_001341826.1:p.Ser40Thr
NM_001354902.2:c.119G>C NP_001341831.1:p.Ser40Thr
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