Canonical Allele Identifier: CA9129001

Gene: C3

Linked Data

• dbSNP Id: rs750770711
• ExAC: 19:6697480 T / TG
• gnomAD v2: 19-6697480-T-TG
• gnomAD v3: 19-6697469-T-TG
• gnomAD v4: 19-6697469-T-TG
• COSMIC: COSM1397411
• MyVariant Identifiers: chr19:g.6697480_6697481insG (hg19) ; chr19:g.6697469_6697470insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697476dup , CM000681.2:g.6697476dup	GRCh38
NC_000019.9:g.6697487dup , CM000681.1:g.6697487dup	GRCh37
NC_000019.8:g.6648487dup	NCBI36
NG_009557.1:g.28182dup , LRG_27:g.28182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1018dup
ENST00000695652.1:c.2547dup	ENSP00000512083.1:p.Lys850GlnfsTer?
ENST00000695653.1:c.579dup	ENSP00000512084.1:p.Lys194GlnfsTer?
ENST00000695654.1:c.1794dup	ENSP00000512085.1:p.Lys599GlnfsTer?
ENST00000695655.1:c.1611dup	ENSP00000512086.1:n.1611dup
ENST00000695692.1:n.2034dup
ENST00000245907.11:c.2670dup MANE Select	ENSP00000245907.4:p.Lys891GlnfsTer?
ENST00000245907.10:c.2670dup	ENSP00000245907.4:p.Lys891GlnfsTer?
ENST00000594005.1:n.246dup
NM_000064.3:c.2670dup	NP_000055.2:p.Lys891GlnfsTer?
NM_000064.4:c.2670dup MANE Select	NP_000055.2:p.Lys891GlnfsTer?