Canonical Allele Identifier: CA040673
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069904
ClinVar RCV Id: RCV004009936
dbSNP Id: rs761104090
ExAC: 1:55509506 A / T
gnomAD v2: 1-55509506-A-T
gnomAD v3: 1-55043833-A-T
gnomAD v4: 1-55043833-A-T
MyVariant Identifiers: chr1:g.55509506A>T (hg19) chr1:g.55043833A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043833A>T , CM000663.2:g.55043833A>T GRCh38
NC_000001.10:g.55509506A>T , CM000663.1:g.55509506A>T GRCh37
NC_000001.9:g.55282094A>T NCBI36
NG_009061.1:g.9287A>T , LRG_275:g.9287A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.208-10A>T ENSP00000501161.2:n.208-10A>T
ENST00000710286.1:c.565-10A>T ENSP00000518176.1:n.565-10A>T
ENST00000673726.1:c.208-10A>T ENSP00000501004.1:n.208-10A>T
ENST00000673903.1:c.-168-10A>T ENSP00000501257.1:n.-168-10A>T
ENST00000302118.5:c.208-10A>T MANE Select ENSP00000303208.5:n.208-10A>T
NM_174936.3:c.208-10A>T , LRG_275t1:c.208-10A>T NP_777596.2:n.208-10A>T
NR_110451.1:n.182+3430A>T
NM_174936.4:c.208-10A>T MANE Select NP_777596.2:n.208-10A>T
NR_110451.2:n.182+3430A>T
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