Canonical Allele Identifier: CA406304889

Gene: APOE

Linked Data

• dbSNP Id: rs1334498236
• gnomAD v2: 19-45412286-G-A
• gnomAD v4: 19-44909029-G-A
• MyVariant Identifiers: chr19:g.45412286G>A (hg19) ; chr19:g.44909029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909029G>A , CM000681.2:g.44909029G>A	GRCh38
NC_000019.9:g.45412286G>A , CM000681.1:g.45412286G>A	GRCh37
NC_000019.8:g.50104126G>A	NCBI36
NG_007084.2:g.8248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.733G>A MANE Select	ENSP00000252486.3:p.Asp245Asn
ENST00000252486.8:c.733G>A	ENSP00000252486.3:p.Asp245Asn
NM_000041.3:c.733G>A	NP_000032.1:p.Asp245Asn
NM_001302688.1:c.811G>A	NP_001289617.1:p.Asp271Asn
NM_001302689.1:c.733G>A	NP_001289618.1:p.Asp245Asn
NM_001302690.1:c.733G>A	NP_001289619.1:p.Asp245Asn
NM_001302691.1:c.733G>A	NP_001289620.1:p.Asp245Asn
NM_000041.4:c.733G>A MANE Select	NP_000032.1:p.Asp245Asn
NM_001302688.2:c.811G>A	NP_001289617.1:p.Asp271Asn
NM_001302689.2:c.733G>A	NP_001289618.1:p.Asp245Asn
NM_001302691.2:c.733G>A	NP_001289620.1:p.Asp245Asn
NM_001302690.2:c.733G>A	NP_001289619.1:p.Asp245Asn