Canonical Allele Identifier: CA041004
Gene: APOE HGNC NCBI
dbSNP:
190853081
gnomAD v2:
19:45412340 G / A
gnomAD v3:
19:44909083 G / A
gnomAD v4:
chr19-44909083-G-A
Joint Max Group AF 0.00503255 (EAS)
Genomes Max Group AF 0.00224528 (EAS)
Exomes Max Group AF 0.00526775 (EAS)
MyVariant.info:
GRCh38 chr19:g.44909083G>A
GRCh37 chr19:g.45412340G>A
Revel Score:
ENST00000252486 (MANE Select) 0.452
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909083G>A , CM000681.2:g.44909083G>A GRCh38
NC_000019.9:g.45412340G>A , CM000681.1:g.45412340G>A GRCh37
NC_000019.8:g.50104180G>A NCBI36
NG_007084.2:g.8302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.787G>A MANE Select ENSP00000252486.3:p.Glu263Lys
ENST00000252486.8:c.787G>A ENSP00000252486.3:p.Glu263Lys
NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys
NM_001302688.1:c.865G>A NP_001289617.1:p.Glu289Lys
NM_001302689.1:c.787G>A NP_001289618.1:p.Glu263Lys
NM_001302690.1:c.787G>A NP_001289619.1:p.Glu263Lys
NM_001302691.1:c.787G>A NP_001289620.1:p.Glu263Lys
NM_000041.4:c.787G>A MANE Select NP_000032.1:p.Glu263Lys
NM_001302688.2:c.865G>A NP_001289617.1:p.Glu289Lys
NM_001302689.2:c.787G>A NP_001289618.1:p.Glu263Lys
NM_001302691.2:c.787G>A NP_001289620.1:p.Glu263Lys
NM_001302690.2:c.787G>A NP_001289619.1:p.Glu263Lys
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