Canonical Allele Identifier: CA127521
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 17876
ClinVar RCV Id: RCV000019462
dbSNP Id: rs28931579

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909236A>C , CM000681.2:g.44909236A>C GRCh38
NC_000019.9:g.45412493A>C , CM000681.1:g.45412493A>C GRCh37
NC_000019.8:g.50104333A>C NCBI36
NG_007084.2:g.8455A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.8:c.940A>C ENSP00000252486.3:p.Ser314Arg
NM_000041.3:c.940A>C NP_000032.1:p.Ser314Arg
NM_001302688.1:c.1018A>C NP_001289617.1:p.Ser340Arg
NM_001302689.1:c.940A>C NP_001289618.1:p.Ser314Arg
NM_001302690.1:c.940A>C NP_001289619.1:p.Ser314Arg
NM_001302691.1:c.940A>C NP_001289620.1:p.Ser314Arg
NM_000041.4:c.940A>C MANE Select NP_000032.1:p.Ser314Arg
NM_001302688.2:c.1018A>C NP_001289617.1:p.Ser340Arg
NM_001302689.2:c.940A>C NP_001289618.1:p.Ser314Arg
NM_001302691.2:c.940A>C NP_001289620.1:p.Ser314Arg
NM_001302690.2:c.940A>C NP_001289619.1:p.Ser314Arg