Canonical Allele Identifier: CA1001927716
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644580993
gnomAD v3: 1-55039524-A-G
gnomAD v4: 1-55039524-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039524A>G , CM000663.2:g.55039524A>G GRCh38
NC_000001.10:g.55505197A>G , CM000663.1:g.55505197A>G GRCh37
NC_000001.9:g.55277785A>G NCBI36
NG_009061.1:g.4978A>G , LRG_275:g.4978A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-314A>G ENSP00000501161.2:n.-314A>G
ENST00000710286.1:c.44A>G ENSP00000518176.1:p.His15Arg
ENST00000673726.1:c.-314A>G ENSP00000501004.1:n.-314A>G
NM_174936.3:c.-314A>G , LRG_275t1:c.-314A>G NP_777596.2:n.-314A>G