Canonical Allele Identifier: CA304794720

Gene: C3

Linked Data

• dbSNP Id: rs776536359
• gnomAD v2: 19-6710002-A-AAGGGAGAGAGGGAGGGAGAGAG
• gnomAD v3: 19-6709991-A-AAGGGAGAGAGGGAGGGAGAGAG
• gnomAD v4: 19-6709991-A-AAGGGAGAGAGGGAGGGAGAGAG
• MyVariant Identifiers: chr19:g.6710002_6710003insAGGGAGAGAGGGAGGGAGAGAG (hg19) ; chr19:g.6709991_6709992insAGGGAGAGAGGGAGGGAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710004_6710025dup , CM000681.2:g.6710004_6710025dup	GRCh38
NC_000019.9:g.6710015_6710036dup , CM000681.1:g.6710015_6710036dup	GRCh37
NC_000019.8:g.6661015_6661036dup	NCBI36
NG_009557.1:g.15639_15660dup , LRG_27:g.15639_15660dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-171_1564-150dup	ENSP00000512083.1:n.1564-171_1564-150dup
ENST00000695654.1:c.811-171_811-150dup	ENSP00000512085.1:n.811-171_811-150dup
ENST00000695655.1:c.592-135_592-114dup	ENSP00000512086.1:n.592-135_592-114dup
ENST00000695692.1:n.1051-171_1051-150dup
ENST00000245907.11:c.1687-171_1687-150dup MANE Select	ENSP00000245907.4:n.1687-171_1687-150dup
ENST00000245907.10:c.1687-171_1687-150dup	ENSP00000245907.4:n.1687-171_1687-150dup
ENST00000600763.1:n.320-171_320-150dup
NM_000064.3:c.1687-171_1687-150dup	NP_000055.2:n.1687-171_1687-150dup
NM_000064.4:c.1687-171_1687-150dup MANE Select	NP_000055.2:n.1687-171_1687-150dup