Canonical Allele Identifier: CA340482741
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2079911
ClinVar RCV Id: RCV002998883 RCV004065232
dbSNP Id: rs1160058809
gnomAD v2: 1-55505596-G-A
gnomAD v4: 1-55039923-G-A
MyVariant Identifiers: chr1:g.55505596G>A (hg19) chr1:g.55039923G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039923G>A , CM000663.2:g.55039923G>A GRCh38
NC_000001.10:g.55505596G>A , CM000663.1:g.55505596G>A GRCh37
NC_000001.9:g.55278184G>A NCBI36
NG_009061.1:g.5377G>A , LRG_275:g.5377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.86G>A ENSP00000501161.2:p.Arg29His
ENST00000710286.1:c.443G>A ENSP00000518176.1:p.Arg148His
ENST00000673726.1:c.86G>A ENSP00000501004.1:p.Arg29His
ENST00000302118.5:c.86G>A MANE Select ENSP00000303208.5:p.Arg29His
NM_174936.3:c.86G>A , LRG_275t1:c.86G>A NP_777596.2:p.Arg29His
NM_174936.4:c.86G>A MANE Select NP_777596.2:p.Arg29His
Search 100 bp 5'
Search 100 bp 3'