Canonical Allele Identifier: CA9129628

Gene: C3

Linked Data

• ClinVar Variation Id: 1336789
• ClinVar RCV Id: RCV001819275
• dbSNP Id: rs756846986
• ExAC: 19:6713335 G / GGAGAGGAGGGCTCA
• gnomAD v2: 19-6713335-G-GGAGAGGAGGGCTCA
• gnomAD v3: 19-6713324-G-GGAGAGGAGGGCTCA
• gnomAD v4: 19-6713324-G-GGAGAGGAGGGCTCA
• MyVariant Identifiers: chr19:g.6713335_6713336insGAGAGGAGGGCTCA (hg19) ; chr19:g.6713324_6713325insGAGAGGAGGGCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713331_6713344dup , CM000681.2:g.6713331_6713344dup	GRCh38
NC_000019.9:g.6713342_6713355dup , CM000681.1:g.6713342_6713355dup	GRCh37
NC_000019.8:g.6664342_6664355dup	NCBI36
NG_009557.1:g.12314_12327dup , LRG_27:g.12314_12327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.754-23_754-10dup	ENSP00000512083.1:n.754-23_754-10dup
ENST00000695692.1:n.201-23_201-10dup
ENST00000245907.11:c.877-23_877-10dup MANE Select	ENSP00000245907.4:n.877-23_877-10dup
ENST00000245907.10:c.877-23_877-10dup	ENSP00000245907.4:n.877-23_877-10dup
ENST00000595577.1:n.381-23_381-10dup
ENST00000597442.5:n.127-23_127-10dup
NM_000064.3:c.877-23_877-10dup	NP_000055.2:n.877-23_877-10dup
NM_000064.4:c.877-23_877-10dup MANE Select	NP_000055.2:n.877-23_877-10dup