Canonical Allele Identifier: CA9506033
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 1798256
ClinVar RCV Id: RCV002442070
dbSNP Id: rs577618688

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908592A>G , CM000681.2:g.44908592A>G GRCh38
NC_000019.9:g.45411849A>G , CM000681.1:g.45411849A>G GRCh37
NC_000019.8:g.50103689A>G NCBI36
NG_007084.2:g.7811A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.296A>G MANE Select ENSP00000252486.3:p.Gln99Arg
ENST00000252486.8:c.296A>G ENSP00000252486.3:p.Gln99Arg
ENST00000425718.1:c.296A>G ENSP00000410423.1:p.Gln99Arg
ENST00000434152.5:c.374A>G ENSP00000413653.2:p.Gln125Arg
ENST00000446996.5:c.296A>G ENSP00000413135.1:p.Gln99Arg
NM_000041.3:c.296A>G NP_000032.1:p.Gln99Arg
NM_001302688.1:c.374A>G NP_001289617.1:p.Gln125Arg
NM_001302689.1:c.296A>G NP_001289618.1:p.Gln99Arg
NM_001302690.1:c.296A>G NP_001289619.1:p.Gln99Arg
NM_001302691.1:c.296A>G NP_001289620.1:p.Gln99Arg
NM_000041.4:c.296A>G MANE Select NP_000032.1:p.Gln99Arg
NM_001302688.2:c.374A>G NP_001289617.1:p.Gln125Arg
NM_001302689.2:c.296A>G NP_001289618.1:p.Gln99Arg
NM_001302691.2:c.296A>G NP_001289620.1:p.Gln99Arg
NM_001302690.2:c.296A>G NP_001289619.1:p.Gln99Arg