Canonical Allele Identifier: CA2587873352

Gene: C3

Linked Data

• gnomAD v4: 19-6686004-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686008_6686009del , CM000681.2:g.6686008_6686009del	GRCh38
NC_000019.9:g.6686019_6686020del , CM000681.1:g.6686019_6686020del	GRCh37
NC_000019.8:g.6637019_6637020del	NCBI36
NG_009557.1:g.39646_39647del , LRG_27:g.39646_39647del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2158+118_2158+119del
ENST00000695653.1:c.1719+118_1719+119del	ENSP00000512084.1:n.1719+118_1719+119del
ENST00000695654.1:c.2835+118_2835+119del	ENSP00000512085.1:n.2835+118_2835+119del
ENST00000245907.11:c.3810+118_3810+119del MANE Select	ENSP00000245907.4:n.3810+118_3810+119del
ENST00000245907.10:c.3810+118_3810+119del	ENSP00000245907.4:n.3810+118_3810+119del
ENST00000596238.1:n.253+118_253+119del
ENST00000601008.1:c.241+740_241+741del	ENSP00000471384.1:n.241+740_241+741del
NM_000064.3:c.3810+118_3810+119del	NP_000055.2:n.3810+118_3810+119del
NM_000064.4:c.3810+118_3810+119del MANE Select	NP_000055.2:n.3810+118_3810+119del