Canonical Allele Identifier: CA9129315

Gene: C3

Linked Data

• dbSNP Id: rs768674481
• ExAC: 19:6709666 CTCAGCAGCCTTGGG / C
• gnomAD v2: 19-6709666-CTCAGCAGCCTTGGG-C
• gnomAD v4: 19-6709655-CTCAGCAGCCTTGGG-C
• MyVariant Identifiers: chr19:g.6709667_6709680del (hg19) ; chr19:g.6709656_6709669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709659_6709672del , CM000681.2:g.6709659_6709672del	GRCh38
NC_000019.9:g.6709670_6709683del , CM000681.1:g.6709670_6709683del	GRCh37
NC_000019.8:g.6660670_6660683del	NCBI36
NG_009557.1:g.15983_15996del , LRG_27:g.15983_15996del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722+15_1722+28del	ENSP00000512083.1:n.1722+15_1722+28del
ENST00000695654.1:c.969+15_969+28del	ENSP00000512085.1:n.969+15_969+28del
ENST00000695655.1:c.786+15_786+28del	ENSP00000512086.1:n.786+15_786+28del
ENST00000695692.1:n.1209+15_1209+28del
ENST00000245907.11:c.1845+15_1845+28del MANE Select	ENSP00000245907.4:n.1845+15_1845+28del
ENST00000245907.10:c.1845+15_1845+28del	ENSP00000245907.4:n.1845+15_1845+28del
NM_000064.3:c.1845+15_1845+28del	NP_000055.2:n.1845+15_1845+28del
NM_000064.4:c.1845+15_1845+28del MANE Select	NP_000055.2:n.1845+15_1845+28del