Canonical Allele Identifier: CA9506109

Gene: APOE

Linked Data

• ClinVar Variation Id: 1763883
• ClinVar RCV Id: RCV002447877
• dbSNP Id: rs750138933
• ExAC: 19:45412409 C / T
• gnomAD v2: 19-45412409-C-T
• gnomAD v3: 19-44909152-C-T
• gnomAD v4: 19-44909152-C-T
• MyVariant Identifiers: chr19:g.45412409C>T (hg19) ; chr19:g.44909152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909152C>T , CM000681.2:g.44909152C>T	GRCh38
NC_000019.9:g.45412409C>T , CM000681.1:g.45412409C>T	GRCh37
NC_000019.8:g.50104249C>T	NCBI36
NG_007084.2:g.8371C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.856C>T MANE Select	ENSP00000252486.3:p.Leu286=
ENST00000252486.8:c.856C>T	ENSP00000252486.3:p.Leu286=
NM_000041.3:c.856C>T	NP_000032.1:p.Leu286=
NM_001302688.1:c.934C>T	NP_001289617.1:p.Leu312=
NM_001302689.1:c.856C>T	NP_001289618.1:p.Leu286=
NM_001302690.1:c.856C>T	NP_001289619.1:p.Leu286=
NM_001302691.1:c.856C>T	NP_001289620.1:p.Leu286=
NM_000041.4:c.856C>T MANE Select	NP_000032.1:p.Leu286=
NM_001302688.2:c.934C>T	NP_001289617.1:p.Leu312=
NM_001302689.2:c.856C>T	NP_001289618.1:p.Leu286=
NM_001302691.2:c.856C>T	NP_001289620.1:p.Leu286=
NM_001302690.2:c.856C>T	NP_001289619.1:p.Leu286=