Canonical Allele Identifier: CA9128378

Gene: C3

Linked Data

• dbSNP Id: rs150201104
• ExAC: 19:6679500 G / C
• gnomAD v2: 19-6679500-G-C
• gnomAD v4: 19-6679489-G-C
• MyVariant Identifiers: chr19:g.6679500G>C (hg19) ; chr19:g.6679489G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679489G>C , CM000681.2:g.6679489G>C	GRCh38
NC_000019.9:g.6679500G>C , CM000681.1:g.6679500G>C	GRCh37
NC_000019.8:g.6630500G>C	NCBI36
NG_009557.1:g.46163C>G , LRG_27:g.46163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2812C>G
ENST00000695653.1:c.2373C>G	ENSP00000512084.1:p.Ser791Arg
ENST00000695654.1:c.3489C>G	ENSP00000512085.1:p.Ser1163Arg
ENST00000695689.1:c.435C>G	ENSP00000512101.1:n.435C>G
ENST00000695690.1:n.1529C>G
ENST00000695691.1:n.1325C>G
ENST00000245907.11:c.4464C>G MANE Select	ENSP00000245907.4:p.Ser1488Arg
ENST00000245907.10:c.4464C>G	ENSP00000245907.4:p.Ser1488Arg
ENST00000599668.1:n.59C>G
ENST00000599899.5:n.1423C>G
ENST00000601008.1:c.242-1531C>G	ENSP00000471384.1:n.242-1531C>G
NM_000064.3:c.4464C>G	NP_000055.2:p.Ser1488Arg
NM_000064.4:c.4464C>G MANE Select	NP_000055.2:p.Ser1488Arg