Canonical Allele Identifier: CA2587873413

Gene: C3

Linked Data

• gnomAD v4: 19-6686213-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686214del , CM000681.2:g.6686214del	GRCh38
NC_000019.9:g.6686225del , CM000681.1:g.6686225del	GRCh37
NC_000019.8:g.6637225del	NCBI36
NG_009557.1:g.39438del , LRG_27:g.39438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2068del
ENST00000695652.1:c.3597del	ENSP00000512083.1:p.Leu1200CysfsTer3
ENST00000695653.1:c.1629del	ENSP00000512084.1:p.Leu544CysfsTer3
ENST00000695654.1:c.2745del	ENSP00000512085.1:p.Leu916CysfsTer3
ENST00000695655.1:c.2661del	ENSP00000512086.1:n.2661del
ENST00000695692.1:n.3084del
ENST00000245907.11:c.3720del MANE Select	ENSP00000245907.4:p.Leu1241CysfsTer3
ENST00000245907.10:c.3720del	ENSP00000245907.4:p.Leu1241CysfsTer3
ENST00000596238.1:n.163del
ENST00000601008.1:c.241+532del	ENSP00000471384.1:n.241+532del
NM_000064.3:c.3720del	NP_000055.2:p.Leu1241CysfsTer3
NM_000064.4:c.3720del MANE Select	NP_000055.2:p.Leu1241CysfsTer3