Canonical Allele Identifier: CA124924783

Gene: APC

Linked Data

• ClinVar Variation Id: 469860
• ClinVar RCV Id: RCV003900202 ; RCV003651958
• dbSNP Id: rs930090983
• gnomAD v2: 5-112043203-G-A
• gnomAD v3: 5-112707506-G-A
• gnomAD v4: 5-112707506-G-A
• MyVariant Identifiers: chr5:g.112043203G>A (hg19) ; chr5:g.112707506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707506G>A , CM000667.2:g.112707506G>A	GRCh38
NC_000005.9:g.112043203G>A , CM000667.1:g.112043203G>A	GRCh37
NC_000005.8:g.112071102G>A	NCBI36
NG_008481.4:g.19986G>A , LRG_130:g.19986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509732.5:c.-162G>A	ENSP00000426541.1:n.-162G>A
NM_001127511.2:c.-212G>A	NP_001120983.2:n.-212G>A
NM_001354895.1:c.-395G>A	NP_001341824.1:n.-395G>A
NM_001354897.1:c.-212G>A	NP_001341826.1:n.-212G>A
NM_001354902.1:c.-212G>A	NP_001341831.1:n.-212G>A
NM_001127511.3:c.-212G>A	NP_001120983.2:n.-212G>A
NM_001354895.2:c.-395G>A	NP_001341824.1:n.-395G>A
NM_001354897.2:c.-212G>A	NP_001341826.1:n.-212G>A
NM_001354902.2:c.-212G>A	NP_001341831.1:n.-212G>A