Canonical Allele Identifier: CA036101

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 369875
• ClinVar RCV Id: RCV000408779 ; RCV000417285 ; RCV001176515 ; RCV001194054 ; RCV002411272 ; RCV003332164
• dbSNP Id: rs143275858
• ExAC: 1:55523779 C / A
• gnomAD v2: 1-55523779-C-A
• gnomAD v3: 1-55058106-C-A
• gnomAD v4: 1-55058106-C-A
• MyVariant Identifiers: chr1:g.55523779C>A (hg19) ; chr1:g.55058106C>A (hg38)
• PubMed: PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058106C>A , CM000663.2:g.55058106C>A	GRCh38
NC_000001.10:g.55523779C>A , CM000663.1:g.55523779C>A	GRCh37
NC_000001.9:g.55296367C>A	NCBI36
NG_009061.1:g.23560C>A , LRG_275:g.23560C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1251C>A	ENSP00000501161.2:p.His417Gln
ENST00000710286.1:c.1608C>A	ENSP00000518176.1:p.His536Gln
ENST00000673903.1:c.876C>A	ENSP00000501257.1:p.His292Gln
ENST00000302118.5:c.1251C>A MANE Select	ENSP00000303208.5:p.His417Gln
ENST00000490692.1:n.1975C>A
NM_174936.3:c.1251C>A , LRG_275t1:c.1251C>A	NP_777596.2:p.His417Gln
NR_110451.1:n.910C>A
XM_011541193.1:c.372C>A	XP_011539495.1:p.His124Gln
NM_174936.4:c.1251C>A MANE Select	NP_777596.2:p.His417Gln
NR_110451.2:n.910C>A