Canonical Allele Identifier: CA6289428
Gene: APOA4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.116821618C>T
GRCh37 chr11:g.116692334C>T
Revel Score:
ENST00000357780 (MANE Select) 0.042
gnomAD v2:
11:116692334 C / T
gnomAD v3:
11:116821618 C / T
gnomAD v4:
chr11-116821618-C-T
Joint Max Group AF 0.88094697 (AFR)
Genomes Max Group AF 0.8778129 (AFR)
Exomes Max Group AF 0.87963125 (AFR)
ClinVar RCV:
RCV001678485
ClinVar Variation:
1268136
dbSNP:
5104
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116821618C>T , CM000673.2:g.116821618C>T GRCh38
NC_000011.9:g.116692334C>T , CM000673.1:g.116692334C>T GRCh37
NC_000011.8:g.116197544C>T NCBI36
NG_012044.1:g.6678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357780.5:c.440G>A MANE Select ENSP00000350425.3:p.Ser147Asn
ENST00000357780.4:c.440G>A ENSP00000350425.3:p.Ser147Asn
NM_000482.3:c.440G>A NP_000473.2:p.Ser147Asn
NM_000482.4:c.440G>A MANE Select NP_000473.2:p.Ser147Asn
Search 100 bp 5'
Search 100 bp 3'