Canonical Allele Identifier: CA406306024
Gene: APOE HGNC NCBI

Linked Data

gnomAD v4: 19-44909238-C-A
MyVariant Identifiers: chr19:g.45412495C>A (hg19) chr19:g.44909238C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909238C>A , CM000681.2:g.44909238C>A GRCh38
NC_000019.9:g.45412495C>A , CM000681.1:g.45412495C>A GRCh37
NC_000019.8:g.50104335C>A NCBI36
NG_007084.2:g.8457C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.942C>A MANE Select ENSP00000252486.3:p.Ser314Arg
ENST00000252486.8:c.942C>A ENSP00000252486.3:p.Ser314Arg
NM_000041.3:c.942C>A NP_000032.1:p.Ser314Arg
NM_001302688.1:c.1020C>A NP_001289617.1:p.Ser340Arg
NM_001302689.1:c.942C>A NP_001289618.1:p.Ser314Arg
NM_001302690.1:c.942C>A NP_001289619.1:p.Ser314Arg
NM_001302691.1:c.942C>A NP_001289620.1:p.Ser314Arg
NM_000041.4:c.942C>A MANE Select NP_000032.1:p.Ser314Arg
NM_001302688.2:c.1020C>A NP_001289617.1:p.Ser340Arg
NM_001302689.2:c.942C>A NP_001289618.1:p.Ser314Arg
NM_001302691.2:c.942C>A NP_001289620.1:p.Ser314Arg
NM_001302690.2:c.942C>A NP_001289619.1:p.Ser314Arg
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