Canonical Allele Identifier: CA9506033

Gene: APOE

Linked Data

• ClinVar Variation Id: 1798256
• ClinVar RCV Id: RCV002442070
• dbSNP Id: rs577618688
• ExAC: 19:45411849 A / G
• gnomAD v2: 19-45411849-A-G
• gnomAD v3: 19-44908592-A-G
• gnomAD v4: 19-44908592-A-G
• MyVariant Identifiers: chr19:g.45411849A>G (hg19) ; chr19:g.44908592A>G (hg38)

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