Canonical Allele Identifier: CA023168
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 189308
dbSNP Id: rs793888521
gnomAD v2: 1-55518037-G-A
gnomAD v3: 1-55052364-G-A
gnomAD v4: 1-55052364-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052364G>A , CM000663.2:g.55052364G>A GRCh38
NC_000001.10:g.55518037G>A , CM000663.1:g.55518037G>A GRCh37
NC_000001.9:g.55290625G>A NCBI36
NG_009061.1:g.17818G>A , LRG_275:g.17818G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.610G>A ENSP00000501161.2:p.Asp204Asn
ENST00000710286.1:c.967G>A ENSP00000518176.1:p.Asp323Asn
ENST00000673726.1:c.*106G>A ENSP00000501004.1:n.*106G>A
ENST00000673903.1:c.235G>A ENSP00000501257.1:p.Asp79Asn
ENST00000302118.5:c.610G>A MANE Select ENSP00000303208.5:p.Asp204Asn
ENST00000490692.1:n.1431G>A
NM_174936.3:c.610G>A , LRG_275t1:c.610G>A NP_777596.2:p.Asp204Asn
NR_110451.1:n.269G>A
NM_174936.4:c.610G>A MANE Select NP_777596.2:p.Asp204Asn
NR_110451.2:n.269G>A