Canonical Allele Identifier: CA406304918

Gene: APOE

Linked Data

• ClinVar Variation Id: 1758697
• ClinVar RCV Id: RCV002380493
• gnomAD v4: 19-44909035-C-G
• MyVariant Identifiers: chr19:g.45412292C>G (hg19) ; chr19:g.44909035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909035C>G , CM000681.2:g.44909035C>G	GRCh38
NC_000019.9:g.45412292C>G , CM000681.1:g.45412292C>G	GRCh37
NC_000019.8:g.50104132C>G	NCBI36
NG_007084.2:g.8254C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.739C>G MANE Select	ENSP00000252486.3:p.Leu247Val
ENST00000252486.8:c.739C>G	ENSP00000252486.3:p.Leu247Val
NM_000041.3:c.739C>G	NP_000032.1:p.Leu247Val
NM_001302688.1:c.817C>G	NP_001289617.1:p.Leu273Val
NM_001302689.1:c.739C>G	NP_001289618.1:p.Leu247Val
NM_001302690.1:c.739C>G	NP_001289619.1:p.Leu247Val
NM_001302691.1:c.739C>G	NP_001289620.1:p.Leu247Val
NM_000041.4:c.739C>G MANE Select	NP_000032.1:p.Leu247Val
NM_001302688.2:c.817C>G	NP_001289617.1:p.Leu273Val
NM_001302689.2:c.739C>G	NP_001289618.1:p.Leu247Val
NM_001302691.2:c.739C>G	NP_001289620.1:p.Leu247Val
NM_001302690.2:c.739C>G	NP_001289619.1:p.Leu247Val