Canonical Allele Identifier: CA127533
Gene: APOA4 HGNC NCBI
COSMIC:
COSM1561077 (not active)
MyVariant.info:
GRCh38 chr11:g.116820918C>A
GRCh37 chr11:g.116691634C>A
Revel Score:
ENST00000357780 (MANE Select) 0.047
gnomAD v2:
11:116691634 C / A
gnomAD v3:
11:116820918 C / A
gnomAD v4:
chr11-116820918-C-A
Joint Max Group AF 0.08691401 (NFE)
Genomes Max Group AF 0.0791402 (NFE)
Exomes Max Group AF 0.08729438 (NFE)
ClinVar RCV:
RCV000019494
RCV001723580
ClinVar Variation:
17905
dbSNP:
5110
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116820918C>A , CM000673.2:g.116820918C>A GRCh38
NC_000011.9:g.116691634C>A , CM000673.1:g.116691634C>A GRCh37
NC_000011.8:g.116196844C>A NCBI36
NG_012044.1:g.7378G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357780.5:c.1140G>T MANE Select ENSP00000350425.3:p.Gln380His
ENST00000357780.4:c.1140G>T ENSP00000350425.3:p.Gln380His
NM_000482.3:c.1140G>T NP_000473.2:p.Gln380His
NM_000482.4:c.1140G>T MANE Select NP_000473.2:p.Gln380His
Search 100 bp 5'
Search 100 bp 3'