Canonical Allele Identifier: CA9506085

Gene: APOE

Linked Data

• ClinVar Variation Id: 1753374
• ClinVar RCV Id: RCV002361617
• dbSNP Id: rs759721023
• ExAC: 19:45412193 G / A
• gnomAD v2: 19-45412193-G-A
• gnomAD v3: 19-44908936-G-A
• gnomAD v4: 19-44908936-G-A
• MyVariant Identifiers: chr19:g.45412193G>A (hg19) ; chr19:g.44908936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908936G>A , CM000681.2:g.44908936G>A	GRCh38
NC_000019.9:g.45412193G>A , CM000681.1:g.45412193G>A	GRCh37
NC_000019.8:g.50104033G>A	NCBI36
NG_007084.2:g.8155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.640G>A MANE Select	ENSP00000252486.3:p.Gly214Ser
ENST00000252486.8:c.640G>A	ENSP00000252486.3:p.Gly214Ser
ENST00000425718.1:c.640G>A	ENSP00000410423.1:p.Gly214Ser
ENST00000434152.5:c.718G>A	ENSP00000413653.2:p.Gly240Ser
ENST00000446996.5:c.640G>A	ENSP00000413135.1:p.Gly214Ser
NM_000041.3:c.640G>A	NP_000032.1:p.Gly214Ser
NM_001302688.1:c.718G>A	NP_001289617.1:p.Gly240Ser
NM_001302689.1:c.640G>A	NP_001289618.1:p.Gly214Ser
NM_001302690.1:c.640G>A	NP_001289619.1:p.Gly214Ser
NM_001302691.1:c.640G>A	NP_001289620.1:p.Gly214Ser
NM_000041.4:c.640G>A MANE Select	NP_000032.1:p.Gly214Ser
NM_001302688.2:c.718G>A	NP_001289617.1:p.Gly240Ser
NM_001302689.2:c.640G>A	NP_001289618.1:p.Gly214Ser
NM_001302691.2:c.640G>A	NP_001289620.1:p.Gly214Ser
NM_001302690.2:c.640G>A	NP_001289619.1:p.Gly214Ser