Canonical Allele Identifier: CA9505908

Gene: APOE

Linked Data

• ClinVar Variation Id: 1175067
• ClinVar RCV Id: RCV001529822
• dbSNP Id: rs440446
• ExAC: 19:45409167 C / G
• gnomAD v2: 19-45409167-C-G
• gnomAD v3: 19-44905910-C-G
• gnomAD v4: 19-44905910-C-G
• MyVariant Identifiers: chr19:g.45409167C>G (hg19) ; chr19:g.44905910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44905910C>G , CM000681.2:g.44905910C>G	GRCh38
NC_000019.9:g.45409167C>G , CM000681.1:g.45409167C>G	GRCh37
NC_000019.8:g.50101007C>G	NCBI36
NG_007084.2:g.5129C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.-24+69C>G MANE Select	ENSP00000252486.3:n.-24+69C>G
ENST00000252486.8:c.-24+69C>G	ENSP00000252486.3:n.-24+69C>G
ENST00000434152.5:c.42C>G	ENSP00000413653.2:p.Asn14Lys
ENST00000446996.5:c.-39+69C>G	ENSP00000413135.1:n.-39+69C>G
ENST00000485628.2:n.46+69C>G
NM_000041.3:c.-24+69C>G	NP_000032.1:n.-24+69C>G
NM_001302688.1:c.42C>G	NP_001289617.1:p.Asn14Lys
NM_001302691.1:c.-39+69C>G	NP_001289620.1:n.-39+69C>G
NM_000041.4:c.-24+69C>G MANE Select	NP_000032.1:n.-24+69C>G
NM_001302688.2:c.42C>G	NP_001289617.1:p.Asn14Lys
NM_001302691.2:c.-39+69C>G	NP_001289620.1:n.-39+69C>G