Canonical Allele Identifier: CA6289705
Gene: APOC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1797265
ClinVar RCV Id: RCV002437890
dbSNP Id: rs144573427
ExAC: 11:116703588 C / A
gnomAD v2: 11-116703588-C-A
gnomAD v3: 11-116832872-C-A
gnomAD v4: 11-116832872-C-A
MyVariant Identifiers: chr11:g.116703588C>A (hg19) chr11:g.116832872C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116832872C>A , CM000673.2:g.116832872C>A GRCh38
NC_000011.9:g.116703588C>A , CM000673.1:g.116703588C>A GRCh37
NC_000011.8:g.116208798C>A NCBI36
NG_008949.1:g.7965C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000227667.8:c.288C>A MANE Select ENSP00000227667.2:p.Ala96=
ENST00000227667.7:c.288C>A ENSP00000227667.2:p.Ala96=
ENST00000375345.3:c.342C>A ENSP00000364494.1:p.Ala114=
ENST00000630701.1:c.342C>A ENSP00000486182.1:p.Ala114=
NM_000040.1:c.288C>A NP_000031.1:p.Ala96=
NM_000040.2:c.288C>A NP_000031.1:p.Ala96=
NM_000040.3:c.288C>A MANE Select NP_000031.1:p.Ala96=
Search 100 bp 5'
Search 100 bp 3'