Canonical Allele Identifier: CA6289718
Gene: APOC3 HGNC NCBI
gnomAD v2:
11:116703640 G / C
gnomAD v3:
11:116832924 G / C
gnomAD v4:
chr11-116832924-G-C
Joint Max Group AF 0.91092779 (NFE)
Genomes Max Group AF 0.90081815 (NFE)
Exomes Max Group AF 0.9112237 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116832924G>C , CM000673.2:g.116832924G>C GRCh38
NC_000011.9:g.116703640G>C , CM000673.1:g.116703640G>C GRCh37
NC_000011.8:g.116208850G>C NCBI36
NG_008949.1:g.8017G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000227667.8:c.*40G>C MANE Select ENSP00000227667.2:n.*40G>C
ENST00000227667.7:c.*40G>C ENSP00000227667.2:n.*40G>C
ENST00000375345.3:c.*40G>C ENSP00000364494.1:n.*40G>C
ENST00000630701.1:c.394G>C ENSP00000486182.1:n.394G>C
NM_000040.1:c.*40G>C NP_000031.1:n.*40G>C
NM_000040.2:c.*40G>C NP_000031.1:n.*40G>C
NM_000040.3:c.*40G>C MANE Select NP_000031.1:n.*40G>C
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