Canonical Allele Identifier: CA2580613031

Gene: C3

Linked Data

• ClinVar Variation Id: 1712462
• ClinVar RCV Id: RCV002294717

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697749_6697751del , CM000681.2:g.6697749_6697751del	GRCh38
NC_000019.9:g.6697760_6697762del , CM000681.1:g.6697760_6697762del	GRCh37
NC_000019.8:g.6648760_6648762del	NCBI36
NG_009557.1:g.27905_27907del , LRG_27:g.27905_27907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.836_838del
ENST00000695652.1:c.2365_2367del	ENSP00000512083.1:p.Phe789del
ENST00000695653.1:c.397_399del	ENSP00000512084.1:p.Phe133del
ENST00000695654.1:c.1612_1614del	ENSP00000512085.1:p.Phe538del
ENST00000695655.1:c.1429_1431del	ENSP00000512086.1:n.1429_1431del
ENST00000695692.1:n.1852_1854del
ENST00000245907.11:c.2488_2490del MANE Select	ENSP00000245907.4:p.Phe830del
ENST00000245907.10:c.2488_2490del	ENSP00000245907.4:p.Phe830del
ENST00000602053.1:n.536_538del
NM_000064.3:c.2488_2490del	NP_000055.2:p.Phe830del
NM_000064.4:c.2488_2490del MANE Select	NP_000055.2:p.Phe830del