Canonical Allele Identifier: CA360611995

Gene: APC

Linked Data

• ClinVar Variation Id: 1047840
• ClinVar RCV Id: RCV003771028
• dbSNP Id: rs773941688
• gnomAD v4: 5-112707823-C-A
• MyVariant Identifiers: chr5:g.112043520C>A (hg19) ; chr5:g.112707823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707823C>A , CM000667.2:g.112707823C>A	GRCh38
NC_000005.9:g.112043520C>A , CM000667.1:g.112043520C>A	GRCh37
NC_000005.8:g.112071419C>A	NCBI36
NG_008481.4:g.20303C>A , LRG_130:g.20303C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.106C>A	ENSP00000481752.1:p.Gln36Lys
ENST00000507379.6:c.106C>A	ENSP00000423224.2:p.Gln36Lys
ENST00000509732.6:c.-19+174C>A	ENSP00000426541.2:n.-19+174C>A
ENST00000505350.1:c.106C>A	ENSP00000481752.1:p.Gln36Lys
ENST00000507379.5:c.106C>A	ENSP00000423224.1:p.Gln36Lys
ENST00000509732.5:c.-19+174C>A	ENSP00000426541.1:n.-19+174C>A
NM_001127511.2:c.106C>A	NP_001120983.2:p.Gln36Lys
NM_001354895.1:c.-78C>A	NP_001341824.1:n.-78C>A
NM_001354897.1:c.106C>A	NP_001341826.1:p.Gln36Lys
NM_001354902.1:c.106C>A	NP_001341831.1:p.Gln36Lys
NM_001127511.3:c.106C>A	NP_001120983.2:p.Gln36Lys
NM_001354895.2:c.-78C>A	NP_001341824.1:n.-78C>A
NM_001354897.2:c.106C>A	NP_001341826.1:p.Gln36Lys
NM_001354902.2:c.106C>A	NP_001341831.1:p.Gln36Lys