Canonical Allele Identifier: CA9128364

Gene: C3

Linked Data

• dbSNP Id: rs766252333
• ExAC: 19:6679391 A / C
• gnomAD v2: 19-6679391-A-C
• gnomAD v4: 19-6679380-A-C
• MyVariant Identifiers: chr19:g.6679391A>C (hg19) ; chr19:g.6679380A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679380A>C , CM000681.2:g.6679380A>C	GRCh38
NC_000019.9:g.6679391A>C , CM000681.1:g.6679391A>C	GRCh37
NC_000019.8:g.6630391A>C	NCBI36
NG_009557.1:g.46272T>G , LRG_27:g.46272T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2894+27T>G
ENST00000695653.1:c.2455+27T>G	ENSP00000512084.1:n.2455+27T>G
ENST00000695654.1:c.3571+27T>G	ENSP00000512085.1:n.3571+27T>G
ENST00000695689.1:c.517+27T>G	ENSP00000512101.1:n.517+27T>G
ENST00000695690.1:n.1611+27T>G
ENST00000695691.1:n.1407+27T>G
ENST00000245907.11:c.4546+27T>G MANE Select	ENSP00000245907.4:n.4546+27T>G
ENST00000245907.10:c.4546+27T>G	ENSP00000245907.4:n.4546+27T>G
ENST00000599668.1:n.166+2T>G
ENST00000599899.5:n.1505+27T>G
ENST00000601008.1:c.242-1422T>G	ENSP00000471384.1:n.242-1422T>G
NM_000064.3:c.4546+27T>G	NP_000055.2:n.4546+27T>G
NM_000064.4:c.4546+27T>G MANE Select	NP_000055.2:n.4546+27T>G