Canonical Allele Identifier: CA040530
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 927118
ClinVar RCV Id: RCV001190140
dbSNP Id: rs779635493
ExAC: 1:55529245 G / C
gnomAD v2: 1-55529245-G-C
gnomAD v4: 1-55063572-G-C
MyVariant Identifiers: chr1:g.55529245G>C (hg19) chr1:g.55063572G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063572G>C , CM000663.2:g.55063572G>C GRCh38
NC_000001.10:g.55529245G>C , CM000663.1:g.55529245G>C GRCh37
NC_000001.9:g.55301833G>C NCBI36
NG_009061.1:g.29026G>C , LRG_275:g.29026G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*407G>C ENSP00000501161.2:n.*407G>C
ENST00000710286.1:c.2424G>C ENSP00000518176.1:p.Gln808His
ENST00000673903.1:c.1692G>C ENSP00000501257.1:p.Gln564His
ENST00000302118.5:c.2067G>C MANE Select ENSP00000303208.5:p.Gln689His
ENST00000490692.1:n.2613G>C
NM_174936.3:c.2067G>C , LRG_275t1:c.2067G>C NP_777596.2:p.Gln689His
NR_110451.1:n.1674G>C
XM_011541193.1:c.1188G>C XP_011539495.1:p.Gln396His
NM_174936.4:c.2067G>C MANE Select NP_777596.2:p.Gln689His
NR_110451.2:n.1674G>C
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