Canonical Allele Identifier: CA9128634

Gene: C3

Linked Data

• dbSNP Id: rs776321400
• ExAC: 19:6686124 GGCCC / G
• gnomAD v2: 19-6686124-GGCCC-G
• gnomAD v4: 19-6686113-GGCCC-G
• MyVariant Identifiers: chr19:g.6686125_6686128del (hg19) ; chr19:g.6686114_6686117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686114_6686117del , CM000681.2:g.6686114_6686117del	GRCh38
NC_000019.9:g.6686125_6686128del , CM000681.1:g.6686125_6686128del	GRCh37
NC_000019.8:g.6637125_6637128del	NCBI36
NG_009557.1:g.39535_39538del , LRG_27:g.39535_39538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+7_2158+10del
ENST00000695653.1:c.1719+7_1719+10del	ENSP00000512084.1:n.1719+7_1719+10del
ENST00000695654.1:c.2835+7_2835+10del	ENSP00000512085.1:n.2835+7_2835+10del
ENST00000695692.1:n.3181_3184del
ENST00000245907.11:c.3810+7_3810+10del MANE Select	ENSP00000245907.4:n.3810+7_3810+10del
ENST00000245907.10:c.3810+7_3810+10del	ENSP00000245907.4:n.3810+7_3810+10del
ENST00000596238.1:n.253+7_253+10del
ENST00000601008.1:c.241+629_241+632del	ENSP00000471384.1:n.241+629_241+632del
NM_000064.3:c.3810+7_3810+10del	NP_000055.2:n.3810+7_3810+10del
NM_000064.4:c.3810+7_3810+10del MANE Select	NP_000055.2:n.3810+7_3810+10del