Canonical Allele Identifier: CA040544

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 262904
• ClinVar RCV Id: RCV000244367 ; RCV000256234 ; RCV000284564 ; RCV000614696 ; RCV001812750 ; RCV003148699
• dbSNP Id: rs2495482
• ExAC: 1:55505732 A / G
• gnomAD v2: 1-55505732-A-G
• gnomAD v3: 1-55040059-A-G
• gnomAD v4: 1-55040059-A-G
• MyVariant Identifiers: chr1:g.55505732A>G (hg19) ; chr1:g.55040059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55040059A>G , CM000663.2:g.55040059A>G	GRCh38
NC_000001.10:g.55505732A>G , CM000663.1:g.55505732A>G	GRCh37
NC_000001.9:g.55278320A>G	NCBI36
NG_009061.1:g.5513A>G , LRG_275:g.5513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.207+15A>G	ENSP00000501161.2:n.207+15A>G
ENST00000710286.1:c.564+15A>G	ENSP00000518176.1:n.564+15A>G
ENST00000673726.1:c.207+15A>G	ENSP00000501004.1:n.207+15A>G
ENST00000302118.5:c.207+15A>G MANE Select	ENSP00000303208.5:n.207+15A>G
NM_174936.3:c.207+15A>G , LRG_275t1:c.207+15A>G	NP_777596.2:n.207+15A>G
NM_174936.4:c.207+15A>G MANE Select	NP_777596.2:n.207+15A>G