Canonical Allele Identifier: CA2587872308

Gene: C3

Linked Data

• gnomAD v4: 19-6682349-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682352_6682353del , CM000681.2:g.6682352_6682353del	GRCh38
NC_000019.9:g.6682363_6682364del , CM000681.1:g.6682363_6682364del	GRCh37
NC_000019.8:g.6633363_6633364del	NCBI36
NG_009557.1:g.43301_43302del , LRG_27:g.43301_43302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-122_2521-121del
ENST00000695653.1:c.2082-122_2082-121del	ENSP00000512084.1:n.2082-122_2082-121del
ENST00000695654.1:c.3198-122_3198-121del	ENSP00000512085.1:n.3198-122_3198-121del
ENST00000695689.1:c.144-122_144-121del	ENSP00000512101.1:n.144-122_144-121del
ENST00000695690.1:n.364-122_364-121del
ENST00000695691.1:n.364-122_364-121del
ENST00000245907.11:c.4173-122_4173-121del MANE Select	ENSP00000245907.4:n.4173-122_4173-121del
ENST00000245907.10:c.4173-122_4173-121del	ENSP00000245907.4:n.4173-122_4173-121del
ENST00000596548.1:c.294-122_294-121del	ENSP00000469744.1:n.294-122_294-121del
ENST00000599899.5:n.1010_1011del
ENST00000601008.1:c.242-4393_242-4392del	ENSP00000471384.1:n.242-4393_242-4392del
NM_000064.3:c.4173-122_4173-121del	NP_000055.2:n.4173-122_4173-121del
NM_000064.4:c.4173-122_4173-121del MANE Select	NP_000055.2:n.4173-122_4173-121del