Canonical Allele Identifier: CA041514

Gene: APOE

Linked Data

• ClinVar Variation Id: 478884
• ClinVar RCV Id: RCV001565388 ; RCV002483522 ; RCV003227792 ; RCV003352927
• dbSNP Id: rs267606661
• ExAC: 19:45412358 C / G
• gnomAD v2: 19-45412358-C-G
• gnomAD v3: 19-44909101-C-G
• gnomAD v4: 19-44909101-C-G
• MyVariant Identifiers: chr19:g.45412358C>G (hg19) ; chr19:g.44909101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909101C>G , CM000681.2:g.44909101C>G	GRCh38
NC_000019.9:g.45412358C>G , CM000681.1:g.45412358C>G	GRCh37
NC_000019.8:g.50104198C>G	NCBI36
NG_007084.2:g.8320C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.805C>G MANE Select	ENSP00000252486.3:p.Arg269Gly
ENST00000252486.8:c.805C>G	ENSP00000252486.3:p.Arg269Gly
NM_000041.3:c.805C>G	NP_000032.1:p.Arg269Gly
NM_001302688.1:c.883C>G	NP_001289617.1:p.Arg295Gly
NM_001302689.1:c.805C>G	NP_001289618.1:p.Arg269Gly
NM_001302690.1:c.805C>G	NP_001289619.1:p.Arg269Gly
NM_001302691.1:c.805C>G	NP_001289620.1:p.Arg269Gly
NM_000041.4:c.805C>G MANE Select	NP_000032.1:p.Arg269Gly
NM_001302688.2:c.883C>G	NP_001289617.1:p.Arg295Gly
NM_001302689.2:c.805C>G	NP_001289618.1:p.Arg269Gly
NM_001302691.2:c.805C>G	NP_001289620.1:p.Arg269Gly
NM_001302690.2:c.805C>G	NP_001289619.1:p.Arg269Gly