Canonical Allele Identifier: CA2587872378

Gene: C3

Linked Data

• gnomAD v4: 19-6682434-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682437_6682438del , CM000681.2:g.6682437_6682438del	GRCh38
NC_000019.9:g.6682448_6682449del , CM000681.1:g.6682448_6682449del	GRCh37
NC_000019.8:g.6633448_6633449del	NCBI36
NG_009557.1:g.43216_43217del , LRG_27:g.43216_43217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-207_2521-206del
ENST00000695653.1:c.2082-207_2082-206del	ENSP00000512084.1:n.2082-207_2082-206del
ENST00000695654.1:c.3198-207_3198-206del	ENSP00000512085.1:n.3198-207_3198-206del
ENST00000695689.1:c.143+171_143+172del	ENSP00000512101.1:n.143+171_143+172del
ENST00000695690.1:n.364-207_364-206del
ENST00000695691.1:n.364-207_364-206del
ENST00000245907.11:c.4173-207_4173-206del MANE Select	ENSP00000245907.4:n.4173-207_4173-206del
ENST00000245907.10:c.4173-207_4173-206del	ENSP00000245907.4:n.4173-207_4173-206del
ENST00000596548.1:c.294-207_294-206del	ENSP00000469744.1:n.294-207_294-206del
ENST00000599899.5:n.925_926del
ENST00000601008.1:c.241+4310_241+4311del	ENSP00000471384.1:n.241+4310_241+4311del
NM_000064.3:c.4173-207_4173-206del	NP_000055.2:n.4173-207_4173-206del
NM_000064.4:c.4173-207_4173-206del MANE Select	NP_000055.2:n.4173-207_4173-206del