Canonical Allele Identifier: CA257693
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17061
ClinVar RCV Id: RCV000018590
dbSNP Id: rs121909584

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6693033G>A , CM000681.2:g.6693033G>A GRCh38
NC_000019.9:g.6693044G>A , CM000681.1:g.6693044G>A GRCh37
NC_000019.8:g.6644044G>A NCBI36
NG_009557.1:g.32619C>T , LRG_27:g.32619C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.1629C>T
ENST00000695652.1:c.3158C>T ENSP00000512083.1:p.Ala1053Val
ENST00000695653.1:c.1190C>T ENSP00000512084.1:p.Ala397Val
ENST00000695654.1:c.2405C>T ENSP00000512085.1:p.Ala802Val
ENST00000695655.1:c.2222C>T ENSP00000512086.1:n.2222C>T
ENST00000695692.1:n.2645C>T
ENST00000245907.11:c.3281C>T MANE Select ENSP00000245907.4:p.Ala1094Val
ENST00000245907.10:c.3281C>T ENSP00000245907.4:p.Ala1094Val
ENST00000598805.2:n.51C>T
NM_000064.3:c.3281C>T NP_000055.2:p.Ala1094Val
NM_000064.4:c.3281C>T MANE Select NP_000055.2:p.Ala1094Val