Canonical Allele Identifier: CA040948
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1790140
ClinVar RCV Id: RCV002448525
dbSNP Id: rs749049179
ExAC: 1:55509543 G / A
gnomAD v2: 1-55509543-G-A
gnomAD v3: 1-55043870-G-A
gnomAD v4: 1-55043870-G-A
COSMIC: COSM910977
MyVariant Identifiers: chr1:g.55509543G>A (hg19) chr1:g.55043870G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043870G>A , CM000663.2:g.55043870G>A GRCh38
NC_000001.10:g.55509543G>A , CM000663.1:g.55509543G>A GRCh37
NC_000001.9:g.55282131G>A NCBI36
NG_009061.1:g.9324G>A , LRG_275:g.9324G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.235G>A ENSP00000501161.2:p.Val79Met
ENST00000710286.1:c.592G>A ENSP00000518176.1:p.Val198Met
ENST00000673726.1:c.235G>A ENSP00000501004.1:p.Val79Met
ENST00000673903.1:c.-141G>A ENSP00000501257.1:n.-141G>A
ENST00000302118.5:c.235G>A MANE Select ENSP00000303208.5:p.Val79Met
NM_174936.3:c.235G>A , LRG_275t1:c.235G>A NP_777596.2:p.Val79Met
NR_110451.1:n.182+3467G>A
NM_174936.4:c.235G>A MANE Select NP_777596.2:p.Val79Met
NR_110451.2:n.182+3467G>A
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