Canonical Allele Identifier: CA127521
Gene: APOE HGNC NCBI
ClinVar RCV:
RCV000019462
ClinVar Variation:
17876
dbSNP:
28931579
gnomAD v2:
19:45412493 A / C
gnomAD v3:
19:44909236 A / C
gnomAD v4:
chr19-44909236-A-C
Joint Max Group AF 0.00021805 (SAS)
Genomes Max Group AF 0.00007293 (SAS)
Exomes Max Group AF 0.00021159 (SAS)
MyVariant.info:
GRCh38 chr19:g.44909236A>C
GRCh37 chr19:g.45412493A>C
Revel Score:
ENST00000252486 (MANE Select) 0.092
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909236A>C , CM000681.2:g.44909236A>C GRCh38
NC_000019.9:g.45412493A>C , CM000681.1:g.45412493A>C GRCh37
NC_000019.8:g.50104333A>C NCBI36
NG_007084.2:g.8455A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.940A>C MANE Select ENSP00000252486.3:p.Ser314Arg
ENST00000252486.8:c.940A>C ENSP00000252486.3:p.Ser314Arg
NM_000041.3:c.940A>C NP_000032.1:p.Ser314Arg
NM_001302688.1:c.1018A>C NP_001289617.1:p.Ser340Arg
NM_001302689.1:c.940A>C NP_001289618.1:p.Ser314Arg
NM_001302690.1:c.940A>C NP_001289619.1:p.Ser314Arg
NM_001302691.1:c.940A>C NP_001289620.1:p.Ser314Arg
NM_000041.4:c.940A>C MANE Select NP_000032.1:p.Ser314Arg
NM_001302688.2:c.1018A>C NP_001289617.1:p.Ser340Arg
NM_001302689.2:c.940A>C NP_001289618.1:p.Ser314Arg
NM_001302691.2:c.940A>C NP_001289620.1:p.Ser314Arg
NM_001302690.2:c.940A>C NP_001289619.1:p.Ser314Arg
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