Canonical Allele Identifier: CA403639614
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2535518
ClinVar RCV Id: RCV003261050

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709829C>G , CM000681.2:g.6709829C>G GRCh38
NC_000019.9:g.6709840C>G , CM000681.1:g.6709840C>G GRCh37
NC_000019.8:g.6660840C>G NCBI36
NG_009557.1:g.15823G>C , LRG_27:g.15823G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1577G>C ENSP00000512083.1:p.Ser526Thr
ENST00000695654.1:c.824G>C ENSP00000512085.1:p.Ser275Thr
ENST00000695655.1:c.641G>C ENSP00000512086.1:n.641G>C
ENST00000695692.1:n.1064G>C
ENST00000245907.11:c.1700G>C MANE Select ENSP00000245907.4:p.Ser567Thr
ENST00000245907.10:c.1700G>C ENSP00000245907.4:p.Ser567Thr
ENST00000600763.1:n.333G>C
NM_000064.3:c.1700G>C NP_000055.2:p.Ser567Thr
NM_000064.4:c.1700G>C MANE Select NP_000055.2:p.Ser567Thr