Canonical Allele Identifier: CA124925107
Gene: APC HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.112707733G>A
GRCh37 chr5:g.112043430G>A
Revel Score:
ENST00000507379 0.267
gnomAD v2:
5:112043430 G / A
gnomAD v3:
5:112707733 G / A
gnomAD v4:
chr5-112707733-G-A
Joint Max Group AF 0.00103378 (AFR)
Genomes Max Group AF 0.00078904 (AFR)
Exomes Max Group AF 0.00118939 (AFR)
ClinVar RCV:
RCV000679422
RCV003537041
ClinVar Variation:
469801
dbSNP:
1043505718
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707733G>A , CM000667.2:g.112707733G>A GRCh38
NC_000005.9:g.112043430G>A , CM000667.1:g.112043430G>A GRCh37
NC_000005.8:g.112071329G>A NCBI36
NG_008481.4:g.20213G>A , LRG_130:g.20213G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.16G>A ENSP00000481752.1:p.Gly6Ser
ENST00000507379.6:c.16G>A ENSP00000423224.2:p.Gly6Ser
ENST00000509732.6:c.-19+84G>A ENSP00000426541.2:n.-19+84G>A
ENST00000505350.1:c.16G>A ENSP00000481752.1:p.Gly6Ser
ENST00000507379.5:c.16G>A ENSP00000423224.1:p.Gly6Ser
ENST00000509732.5:c.-19+84G>A ENSP00000426541.1:n.-19+84G>A
NM_001127511.2:c.16G>A NP_001120983.2:p.Gly6Ser
NM_001354895.1:c.-168G>A NP_001341824.1:n.-168G>A
NM_001354897.1:c.16G>A NP_001341826.1:p.Gly6Ser
NM_001354902.1:c.16G>A NP_001341831.1:p.Gly6Ser
NM_001127511.3:c.16G>A NP_001120983.2:p.Gly6Ser
NM_001354895.2:c.-168G>A NP_001341824.1:n.-168G>A
NM_001354897.2:c.16G>A NP_001341826.1:p.Gly6Ser
NM_001354902.2:c.16G>A NP_001341831.1:p.Gly6Ser
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