Canonical Allele Identifier: CA522960423
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055084
ClinVar RCV Id: RCV001363696
dbSNP Id: rs1306315743
gnomAD v2: 1-55505723-G-C
gnomAD v3: 1-55040050-G-C
gnomAD v4: 1-55040050-G-C
MyVariant Identifiers: chr1:g.55505723G>C (hg19) chr1:g.55040050G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55040050G>C , CM000663.2:g.55040050G>C GRCh38
NC_000001.10:g.55505723G>C , CM000663.1:g.55505723G>C GRCh37
NC_000001.9:g.55278311G>C NCBI36
NG_009061.1:g.5504G>C , LRG_275:g.5504G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.207+6G>C ENSP00000501161.2:n.207+6G>C
ENST00000710286.1:c.564+6G>C ENSP00000518176.1:n.564+6G>C
ENST00000673726.1:c.207+6G>C ENSP00000501004.1:n.207+6G>C
ENST00000302118.5:c.207+6G>C MANE Select ENSP00000303208.5:n.207+6G>C
NM_174936.3:c.207+6G>C , LRG_275t1:c.207+6G>C NP_777596.2:n.207+6G>C
NM_174936.4:c.207+6G>C MANE Select NP_777596.2:n.207+6G>C
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