Canonical Allele Identifier: CA9506092

Gene: APOE

Linked Data

• ClinVar Variation Id: 729588
• ClinVar RCV Id: RCV000904258 ; RCV003169260
• dbSNP Id: rs771354248
• ExAC: 19:45412300 G / A
• gnomAD v2: 19-45412300-G-A
• gnomAD v3: 19-44909043-G-A
• gnomAD v4: 19-44909043-G-A
• MyVariant Identifiers: chr19:g.45412300G>A (hg19) ; chr19:g.44909043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909043G>A , CM000681.2:g.44909043G>A	GRCh38
NC_000019.9:g.45412300G>A , CM000681.1:g.45412300G>A	GRCh37
NC_000019.8:g.50104140G>A	NCBI36
NG_007084.2:g.8262G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.747G>A MANE Select	ENSP00000252486.3:p.Glu249=
ENST00000252486.8:c.747G>A	ENSP00000252486.3:p.Glu249=
NM_000041.3:c.747G>A	NP_000032.1:p.Glu249=
NM_001302688.1:c.825G>A	NP_001289617.1:p.Glu275=
NM_001302689.1:c.747G>A	NP_001289618.1:p.Glu249=
NM_001302690.1:c.747G>A	NP_001289619.1:p.Glu249=
NM_001302691.1:c.747G>A	NP_001289620.1:p.Glu249=
NM_000041.4:c.747G>A MANE Select	NP_000032.1:p.Glu249=
NM_001302688.2:c.825G>A	NP_001289617.1:p.Glu275=
NM_001302689.2:c.747G>A	NP_001289618.1:p.Glu249=
NM_001302691.2:c.747G>A	NP_001289620.1:p.Glu249=
NM_001302690.2:c.747G>A	NP_001289619.1:p.Glu249=