Canonical Allele Identifier: CA2645835886

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55039490-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039490T>C , CM000663.2:g.55039490T>C	GRCh38
NC_000001.10:g.55505163T>C , CM000663.1:g.55505163T>C	GRCh37
NC_000001.9:g.55277751T>C	NCBI36
NG_009061.1:g.4944T>C , LRG_275:g.4944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.-348T>C	ENSP00000501161.2:n.-348T>C
ENST00000710286.1:c.10T>C	ENSP00000518176.1:p.Trp4Arg
ENST00000673726.1:c.-348T>C	ENSP00000501004.1:n.-348T>C
NM_174936.3:c.-348T>C , LRG_275t1:c.-348T>C	NP_777596.2:n.-348T>C