Canonical Allele Identifier: CA047043

Gene: APC

Linked Data

• ClinVar Variation Id: 215431
• ClinVar RCV Id: RCV000576148 ; RCV000835178 ; RCV000779728 ; RCV003743623 ; RCV003967526 ; RCV003996932
• dbSNP Id: rs141454910
• ExAC: 5:112178428 C / G
• gnomAD v2: 5-112178428-C-G
• gnomAD v3: 5-112842731-C-G
• gnomAD v4: 5-112842731-C-G
• MyVariant Identifiers: chr5:g.112178428C>G (hg19) ; chr5:g.112842731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842731C>G , CM000667.2:g.112842731C>G	GRCh38
NC_000005.9:g.112178428C>G , CM000667.1:g.112178428C>G	GRCh37
NC_000005.8:g.112206327C>G	NCBI36
NG_008481.4:g.155211C>G , LRG_130:g.155211C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7191C>G	ENSP00000473355.2:p.Thr2397=
ENST00000505350.2:c.*7143C>G	ENSP00000481752.1:n.*7143C>G
ENST00000507379.6:c.7083C>G	ENSP00000423224.2:p.Thr2361=
ENST00000509732.6:c.7137C>G	ENSP00000426541.2:p.Thr2379=
ENST00000512211.7:c.7137C>G	ENSP00000423828.3:p.Thr2379=
ENST00000257430.9:c.7137C>G MANE Select	ENSP00000257430.4:p.Thr2379=
ENST00000257430.8:c.7137C>G	ENSP00000257430.4:p.Thr2379=
ENST00000508376.6:c.7137C>G	ENSP00000427089.2:p.Thr2379=
ENST00000508624.5:c.*6459C>G	ENSP00000424265.1:n.*6459C>G
ENST00000520401.1:c.230+13759C>G
NM_000038.5:c.7137C>G	NP_000029.2:p.Thr2379=
NM_001127510.2:c.7137C>G	NP_001120982.1:p.Thr2379=
NM_001127511.2:c.7083C>G	NP_001120983.2:p.Thr2361=
NM_001354895.1:c.7137C>G	NP_001341824.1:p.Thr2379=
NM_001354896.1:c.7191C>G	NP_001341825.1:p.Thr2397=
NM_001354897.1:c.7167C>G	NP_001341826.1:p.Thr2389=
NM_001354898.1:c.7062C>G	NP_001341827.1:p.Thr2354=
NM_001354899.1:c.7053C>G	NP_001341828.1:p.Thr2351=
NM_001354900.1:c.7014C>G	NP_001341829.1:p.Thr2338=
NM_001354901.1:c.6960C>G	NP_001341830.1:p.Thr2320=
NM_001354902.1:c.6864C>G	NP_001341831.1:p.Thr2288=
NM_001354903.1:c.6834C>G	NP_001341832.1:p.Thr2278=
NM_001354904.1:c.6759C>G	NP_001341833.1:p.Thr2253=
NM_001354905.1:c.6657C>G	NP_001341834.1:p.Thr2219=
NM_001354906.1:c.6288C>G	NP_001341835.1:p.Thr2096=
NM_000038.6:c.7137C>G MANE Select	NP_000029.2:p.Thr2379=
NM_001127510.3:c.7137C>G	NP_001120982.1:p.Thr2379=
NM_001127511.3:c.7083C>G	NP_001120983.2:p.Thr2361=
NM_001354895.2:c.7137C>G	NP_001341824.1:p.Thr2379=
NM_001354896.2:c.7191C>G	NP_001341825.1:p.Thr2397=
NM_001354897.2:c.7167C>G	NP_001341826.1:p.Thr2389=
NM_001354898.2:c.7062C>G	NP_001341827.1:p.Thr2354=
NM_001354899.2:c.7053C>G	NP_001341828.1:p.Thr2351=
NM_001354900.2:c.7014C>G	NP_001341829.1:p.Thr2338=
NM_001354901.2:c.6960C>G	NP_001341830.1:p.Thr2320=
NM_001354902.2:c.6864C>G	NP_001341831.1:p.Thr2288=
NM_001354903.2:c.6834C>G	NP_001341832.1:p.Thr2278=
NM_001354904.2:c.6759C>G	NP_001341833.1:p.Thr2253=
NM_001354905.2:c.6657C>G	NP_001341834.1:p.Thr2219=
NM_001354906.2:c.6288C>G	NP_001341835.1:p.Thr2096=