Canonical Allele Identifier: CA163268
Gene: APOC3 HGNC NCBI
gnomAD v2:
11:116701613 G / T
gnomAD v3:
11:116830897 G / T
gnomAD v4:
chr11-116830897-G-T
Joint Max Group AF 0.00067494 (AFR)
Genomes Max Group AF 0.00062402 (AFR)
Exomes Max Group AF 0.00059397 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116830897G>T , CM000673.2:g.116830897G>T GRCh38
NC_000011.9:g.116701613G>T , CM000673.1:g.116701613G>T GRCh37
NC_000011.8:g.116206823G>T NCBI36
NG_008949.1:g.5990G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227667.8:c.179+1G>T MANE Select ENSP00000227667.2:n.179+1G>T
ENST00000227667.7:c.179+1G>T ENSP00000227667.2:n.179+1G>T
ENST00000375345.3:c.233+1G>T ENSP00000364494.1:n.233+1G>T
ENST00000470144.1:n.211+1G>T
ENST00000630701.1:c.233+1G>T ENSP00000486182.1:n.233+1G>T
NM_000040.1:c.179+1G>T NP_000031.1:n.179+1G>T
NM_000040.2:c.179+1G>T NP_000031.1:n.179+1G>T
NM_000040.3:c.179+1G>T MANE Select NP_000031.1:n.179+1G>T
Search 100 bp 5'
Search 100 bp 3'