Canonical Allele Identifier: CA124924789

Gene: APC

Linked Data

• ClinVar Variation Id: 469859
• ClinVar RCV Id: RCV000764556 ; RCV003935480 ; RCV003742655
• dbSNP Id: rs554351451
• gnomAD v2: 5-112043211-A-G
• gnomAD v3: 5-112707514-A-G
• gnomAD v4: 5-112707514-A-G
• MyVariant Identifiers: chr5:g.112043211A>G (hg19) ; chr5:g.112707514A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707514A>G , CM000667.2:g.112707514A>G	GRCh38
NC_000005.9:g.112043211A>G , CM000667.1:g.112043211A>G	GRCh37
NC_000005.8:g.112071110A>G	NCBI36
NG_008481.4:g.19994A>G , LRG_130:g.19994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509732.5:c.-154A>G	ENSP00000426541.1:n.-154A>G
NM_001127511.2:c.-204A>G	NP_001120983.2:n.-204A>G
NM_001354895.1:c.-387A>G	NP_001341824.1:n.-387A>G
NM_001354897.1:c.-204A>G	NP_001341826.1:n.-204A>G
NM_001354902.1:c.-204A>G	NP_001341831.1:n.-204A>G
NM_001127511.3:c.-204A>G	NP_001120983.2:n.-204A>G
NM_001354895.2:c.-387A>G	NP_001341824.1:n.-387A>G
NM_001354897.2:c.-204A>G	NP_001341826.1:n.-204A>G
NM_001354902.2:c.-204A>G	NP_001341831.1:n.-204A>G