Canonical Allele Identifier: CA993073648

Gene: C3

Linked Data

• dbSNP Id: rs1967871427
• gnomAD v3: 19-6710031-GAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGAGAGGGAGAGAGAGAGGGAAAGAGAGAAGGAGAGAAAGAGGGAGAGAGAA-G
• gnomAD v4: 19-6710031-GAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGAGAGGGAGAGAGAGAGGGAAAGAGAGAAGGAGAGAAAGAGGGAGAGAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710032_6710226del , CM000681.2:g.6710032_6710226del	GRCh38
NC_000019.9:g.6710043_6710237del , CM000681.1:g.6710043_6710237del	GRCh37
NC_000019.8:g.6661043_6661237del	NCBI36
NG_009557.1:g.15426_15620del , LRG_27:g.15426_15620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-384_1564-190del	ENSP00000512083.1:n.1564-384_1564-190del
ENST00000695654.1:c.811-384_811-190del	ENSP00000512085.1:n.811-384_811-190del
ENST00000695655.1:c.592-348_592-154del	ENSP00000512086.1:n.592-348_592-154del
ENST00000695692.1:n.1051-384_1051-190del
ENST00000245907.11:c.1687-384_1687-190del MANE Select	ENSP00000245907.4:n.1687-384_1687-190del
ENST00000245907.10:c.1687-384_1687-190del	ENSP00000245907.4:n.1687-384_1687-190del
ENST00000600763.1:n.320-384_320-190del
NM_000064.3:c.1687-384_1687-190del	NP_000055.2:n.1687-384_1687-190del
NM_000064.4:c.1687-384_1687-190del MANE Select	NP_000055.2:n.1687-384_1687-190del