Canonical Allele Identifier: CA127528
Gene: APOC3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.116832864A>G
GRCh37 chr11:g.116703580A>G
Revel Score:
ENST00000227667 (MANE Select) 0.582
ENST00000375345 0.582
gnomAD v2:
11:116703580 A / G
gnomAD v3:
11:116832864 A / G
gnomAD v4:
chr11-116832864-A-G
Joint Max Group AF 0.00065251 (EAS)
Exomes Max Group AF 0.0007161 (EAS)
ClinVar RCV:
RCV000019491
ClinVar Variation:
17902
dbSNP:
121918381
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116832864A>G , CM000673.2:g.116832864A>G GRCh38
NC_000011.9:g.116703580A>G , CM000673.1:g.116703580A>G GRCh37
NC_000011.8:g.116208790A>G NCBI36
NG_008949.1:g.7957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000227667.8:c.280A>G MANE Select ENSP00000227667.2:p.Thr94Ala
ENST00000227667.7:c.280A>G ENSP00000227667.2:p.Thr94Ala
ENST00000375345.3:c.334A>G ENSP00000364494.1:p.Thr112Ala
ENST00000630701.1:c.334A>G ENSP00000486182.1:p.Thr112Ala
NM_000040.1:c.280A>G NP_000031.1:p.Thr94Ala
NM_000040.2:c.280A>G NP_000031.1:p.Thr94Ala
NM_000040.3:c.280A>G MANE Select NP_000031.1:p.Thr94Ala
Search 100 bp 5'
Search 100 bp 3'