Canonical Allele Identifier: CA163266
Gene: APOC3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.116830844G>A
GRCh37 chr11:g.116701560G>A
Revel Score:
ENST00000433777 0.653
ENST00000227667 (MANE Select) 0.653
ENST00000375345 0.653
gnomAD v2:
11:116701560 G / A
gnomAD v3:
11:116830844 G / A
gnomAD v4:
chr11-116830844-G-A
Joint Max Group AF 0.00165194 (AFR)
Genomes Max Group AF 0.0020271 (AFR)
Exomes Max Group AF 0.00097956 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116830844G>A , CM000673.2:g.116830844G>A GRCh38
NC_000011.9:g.116701560G>A , CM000673.1:g.116701560G>A GRCh37
NC_000011.8:g.116206770G>A NCBI36
NG_008949.1:g.5937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227667.8:c.127G>A MANE Select ENSP00000227667.2:p.Ala43Thr
ENST00000227667.7:c.127G>A ENSP00000227667.2:p.Ala43Thr
ENST00000375345.3:c.181G>A ENSP00000364494.1:p.Ala61Thr
ENST00000433777.5:c.127G>A ENSP00000410614.1:p.Ala43Thr
ENST00000470144.1:n.159G>A
ENST00000630701.1:c.181G>A ENSP00000486182.1:p.Ala61Thr
NM_000040.1:c.127G>A NP_000031.1:p.Ala43Thr
NM_000040.2:c.127G>A NP_000031.1:p.Ala43Thr
NM_000040.3:c.127G>A MANE Select NP_000031.1:p.Ala43Thr
Search 100 bp 5'
Search 100 bp 3'