Canonical Allele Identifier: CA993063361

Gene: C3

Linked Data

• dbSNP Id: rs1917814327
• gnomAD v3: 19-6679840-T-TGAACCCATCAGACCCCC
• gnomAD v4: 19-6679840-T-TGAACCCATCAGACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679841_6679857dup , CM000681.2:g.6679841_6679857dup	GRCh38
NC_000019.9:g.6679852_6679868dup , CM000681.1:g.6679852_6679868dup	GRCh37
NC_000019.8:g.6630852_6630868dup	NCBI36
NG_009557.1:g.45795_45811dup , LRG_27:g.45795_45811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2804+301_2804+317dup
ENST00000695653.1:c.2365+301_2365+317dup	ENSP00000512084.1:n.2365+301_2365+317dup
ENST00000695654.1:c.3481+301_3481+317dup	ENSP00000512085.1:n.3481+301_3481+317dup
ENST00000695689.1:c.427+301_427+317dup	ENSP00000512101.1:n.427+301_427+317dup
ENST00000695690.1:n.1521+301_1521+317dup
ENST00000695691.1:n.1317+301_1317+317dup
ENST00000245907.11:c.4456+301_4456+317dup MANE Select	ENSP00000245907.4:n.4456+301_4456+317dup
ENST00000245907.10:c.4456+301_4456+317dup	ENSP00000245907.4:n.4456+301_4456+317dup
ENST00000599668.1:n.51+244_51+260dup
ENST00000599899.5:n.1415+301_1415+317dup
ENST00000601008.1:c.242-1899_242-1883dup	ENSP00000471384.1:n.242-1899_242-1883dup
NM_000064.3:c.4456+301_4456+317dup	NP_000055.2:n.4456+301_4456+317dup
NM_000064.4:c.4456+301_4456+317dup MANE Select	NP_000055.2:n.4456+301_4456+317dup