Canonical Allele Identifier: CA340482852
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 440706
ClinVar RCV Id: RCV000508901
dbSNP Id: rs1372204035
gnomAD v2: 1-55505650-C-G
gnomAD v4: 1-55039977-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039977C>G , CM000663.2:g.55039977C>G GRCh38
NC_000001.10:g.55505650C>G , CM000663.1:g.55505650C>G GRCh37
NC_000001.9:g.55278238C>G NCBI36
NG_009061.1:g.5431C>G , LRG_275:g.5431C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.140C>G ENSP00000501161.2:p.Ser47Cys
ENST00000710286.1:c.497C>G ENSP00000518176.1:p.Ser166Cys
ENST00000673726.1:c.140C>G ENSP00000501004.1:p.Ser47Cys
ENST00000302118.5:c.140C>G MANE Select ENSP00000303208.5:p.Ser47Cys
NM_174936.3:c.140C>G , LRG_275t1:c.140C>G NP_777596.2:p.Ser47Cys
NM_174936.4:c.140C>G MANE Select NP_777596.2:p.Ser47Cys