Canonical Allele Identifier: CA163265
Gene: APOC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 139560
ClinVar RCV Id: RCV000128449 RCV000148017 RCV001401913 RCV002271410 RCV002345442
dbSNP Id: rs138326449
ExAC: 11:116701354 G / A
gnomAD v2: 11-116701354-G-A
gnomAD v3: 11-116830638-G-A
gnomAD v4: 11-116830638-G-A
COSMIC: COSM3687097
MyVariant Identifiers: chr11:g.116701354G>A (hg19) chr11:g.116830638G>A (hg38)
PubMed: PMID:24941081 PMID:24941082 PMID:25962519
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116830638G>A , CM000673.2:g.116830638G>A GRCh38
NC_000011.9:g.116701354G>A , CM000673.1:g.116701354G>A GRCh37
NC_000011.8:g.116206564G>A NCBI36
NG_008949.1:g.5731G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000227667.8:c.55+1G>A MANE Select ENSP00000227667.2:n.55+1G>A
ENST00000227667.7:c.55+1G>A ENSP00000227667.2:n.55+1G>A
ENST00000375345.3:c.109+1G>A ENSP00000364494.1:n.109+1G>A
ENST00000433777.5:c.55+1G>A ENSP00000410614.1:n.55+1G>A
ENST00000470144.1:n.87+1G>A
ENST00000630701.1:c.109+1G>A ENSP00000486182.1:n.109+1G>A
NM_000040.1:c.55+1G>A NP_000031.1:n.55+1G>A
NM_000040.2:c.55+1G>A NP_000031.1:n.55+1G>A
NM_000040.3:c.55+1G>A MANE Select NP_000031.1:n.55+1G>A
Search 100 bp 5'
Search 100 bp 3'