Canonical Allele Identifier: CA9128668

Gene: C3

Linked Data

• ClinVar Variation Id: 1156191
• ClinVar RCV Id: RCV001498737 ; RCV002501717
• dbSNP Id: rs760807491
• ExAC: 19:6686311 T / C
• gnomAD v2: 19-6686311-T-C
• gnomAD v3: 19-6686300-T-C
• gnomAD v4: 19-6686300-T-C
• MyVariant Identifiers: chr19:g.6686311T>C (hg19) ; chr19:g.6686300T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686300T>C , CM000681.2:g.6686300T>C	GRCh38
NC_000019.9:g.6686311T>C , CM000681.1:g.6686311T>C	GRCh37
NC_000019.8:g.6637311T>C	NCBI36
NG_009557.1:g.39352A>G , LRG_27:g.39352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1995-13A>G
ENST00000695652.1:c.3524-13A>G	ENSP00000512083.1:n.3524-13A>G
ENST00000695653.1:c.1556-13A>G	ENSP00000512084.1:n.1556-13A>G
ENST00000695654.1:c.2672-13A>G	ENSP00000512085.1:n.2672-13A>G
ENST00000695655.1:c.2588-13A>G	ENSP00000512086.1:n.2588-13A>G
ENST00000695692.1:n.3011-13A>G
ENST00000245907.11:c.3647-13A>G MANE Select	ENSP00000245907.4:n.3647-13A>G
ENST00000245907.10:c.3647-13A>G	ENSP00000245907.4:n.3647-13A>G
ENST00000596238.1:n.77A>G
ENST00000598805.2:n.862A>G
ENST00000601008.1:c.241+446A>G	ENSP00000471384.1:n.241+446A>G
NM_000064.3:c.3647-13A>G	NP_000055.2:n.3647-13A>G
NM_000064.4:c.3647-13A>G MANE Select	NP_000055.2:n.3647-13A>G