Canonical Allele Identifier: CA561890250

Gene: APC

Linked Data

• ClinVar Variation Id: 640212
• ClinVar RCV Id: RCV003653328
• dbSNP Id: rs1208195997
• gnomAD v2: 5-112043268-G-A
• gnomAD v3: 5-112707571-G-A
• gnomAD v4: 5-112707571-G-A
• MyVariant Identifiers: chr5:g.112043268G>A (hg19) ; chr5:g.112707571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707571G>A , CM000667.2:g.112707571G>A	GRCh38
NC_000005.9:g.112043268G>A , CM000667.1:g.112043268G>A	GRCh37
NC_000005.8:g.112071167G>A	NCBI36
NG_008481.4:g.20051G>A , LRG_130:g.20051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-147G>A	ENSP00000481752.1:n.-147G>A
ENST00000507379.6:c.-147G>A	ENSP00000423224.2:n.-147G>A
ENST00000509732.6:c.-97G>A	ENSP00000426541.2:n.-97G>A
ENST00000505350.1:c.-147G>A	ENSP00000481752.1:n.-147G>A
ENST00000507379.5:c.-147G>A	ENSP00000423224.1:n.-147G>A
ENST00000509732.5:c.-97G>A	ENSP00000426541.1:n.-97G>A
NM_001127511.2:c.-147G>A	NP_001120983.2:n.-147G>A
NM_001354895.1:c.-330G>A	NP_001341824.1:n.-330G>A
NM_001354897.1:c.-147G>A	NP_001341826.1:n.-147G>A
NM_001354902.1:c.-147G>A	NP_001341831.1:n.-147G>A
NM_001127511.3:c.-147G>A	NP_001120983.2:n.-147G>A
NM_001354895.2:c.-330G>A	NP_001341824.1:n.-330G>A
NM_001354897.2:c.-147G>A	NP_001341826.1:n.-147G>A
NM_001354902.2:c.-147G>A	NP_001341831.1:n.-147G>A