Canonical Allele Identifier: CA1001927740

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 2775408
• ClinVar RCV Id: RCV003582171
• dbSNP Id: rs1644581051
• gnomAD v3: 1-55039530-A-G
• gnomAD v4: 1-55039530-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039530A>G , CM000663.2:g.55039530A>G	GRCh38
NC_000001.10:g.55505203A>G , CM000663.1:g.55505203A>G	GRCh37
NC_000001.9:g.55277791A>G	NCBI36
NG_009061.1:g.4984A>G , LRG_275:g.4984A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.-308A>G	ENSP00000501161.2:n.-308A>G
ENST00000710286.1:c.50A>G	ENSP00000518176.1:p.His17Arg
ENST00000673726.1:c.-308A>G	ENSP00000501004.1:n.-308A>G
NM_174936.3:c.-308A>G , LRG_275t1:c.-308A>G	NP_777596.2:n.-308A>G