Canonical Allele Identifier: CA16023978
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2067199
ClinVar RCV Id: RCV002943866
dbSNP Id: rs890378836

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112819255A>G , CM000667.2:g.112819255A>G GRCh38
NC_000005.9:g.112154952A>G , CM000667.1:g.112154952A>G GRCh37
NC_000005.8:g.112182851A>G NCBI36
NG_008481.4:g.131735A>G , LRG_130:g.131735A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1223A>G ENSP00000484935.2:p.His408Arg
ENST00000504915.3:c.1223A>G ENSP00000473355.2:p.His408Arg
ENST00000505084.2:n.1279A>G
ENST00000505350.2:c.*1229A>G ENSP00000481752.1:n.*1229A>G
ENST00000507379.6:c.1169A>G ENSP00000423224.2:p.His390Arg
ENST00000509732.6:c.1223A>G ENSP00000426541.2:p.His408Arg
ENST00000512211.7:c.1223A>G ENSP00000423828.3:p.His408Arg
ENST00000257430.9:c.1223A>G MANE Select ENSP00000257430.4:p.His408Arg
ENST00000257430.8:c.1223A>G ENSP00000257430.4:p.His408Arg
ENST00000507379.5:c.1169A>G ENSP00000423224.1:p.His390Arg
ENST00000508376.6:c.1223A>G ENSP00000427089.2:p.His408Arg
ENST00000508624.5:c.*545A>G ENSP00000424265.1:n.*545A>G
ENST00000512211.6:c.1223A>G ENSP00000423828.2:p.His408Arg
NM_000038.5:c.1223A>G NP_000029.2:p.His408Arg
NM_001127510.2:c.1223A>G NP_001120982.1:p.His408Arg
NM_001127511.2:c.1169A>G NP_001120983.2:p.His390Arg
NM_001354895.1:c.1223A>G NP_001341824.1:p.His408Arg
NM_001354896.1:c.1223A>G NP_001341825.1:p.His408Arg
NM_001354897.1:c.1253A>G NP_001341826.1:p.His418Arg
NM_001354898.1:c.1148A>G NP_001341827.1:p.His383Arg
NM_001354899.1:c.1139A>G NP_001341828.1:p.His380Arg
NM_001354900.1:c.1046A>G NP_001341829.1:p.His349Arg
NM_001354901.1:c.1046A>G NP_001341830.1:p.His349Arg
NM_001354902.1:c.964-14A>G NP_001341831.1:n.964-14A>G
NM_001354903.1:c.934-14A>G NP_001341832.1:n.934-14A>G
NM_001354904.1:c.859-14A>G NP_001341833.1:n.859-14A>G
NM_001354905.1:c.757-14A>G NP_001341834.1:n.757-14A>G
NM_001354906.1:c.374A>G NP_001341835.1:p.His125Arg
NM_000038.6:c.1223A>G MANE Select NP_000029.2:p.His408Arg
NM_001127510.3:c.1223A>G NP_001120982.1:p.His408Arg
NM_001127511.3:c.1169A>G NP_001120983.2:p.His390Arg
NM_001354895.2:c.1223A>G NP_001341824.1:p.His408Arg
NM_001354896.2:c.1223A>G NP_001341825.1:p.His408Arg
NM_001354897.2:c.1253A>G NP_001341826.1:p.His418Arg
NM_001354898.2:c.1148A>G NP_001341827.1:p.His383Arg
NM_001354899.2:c.1139A>G NP_001341828.1:p.His380Arg
NM_001354900.2:c.1046A>G NP_001341829.1:p.His349Arg
NM_001354901.2:c.1046A>G NP_001341830.1:p.His349Arg
NM_001354902.2:c.964-14A>G NP_001341831.1:n.964-14A>G
NM_001354903.2:c.934-14A>G NP_001341832.1:n.934-14A>G
NM_001354904.2:c.859-14A>G NP_001341833.1:n.859-14A>G
NM_001354905.2:c.757-14A>G NP_001341834.1:n.757-14A>G
NM_001354906.2:c.374A>G NP_001341835.1:p.His125Arg