Canonical Allele Identifier: CA403619480

Gene: C3

Linked Data

• gnomAD v4: 19-6686158-T-C
• MyVariant Identifiers: chr19:g.6686169T>C (hg19) ; chr19:g.6686158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686158T>C , CM000681.2:g.6686158T>C	GRCh38
NC_000019.9:g.6686169T>C , CM000681.1:g.6686169T>C	GRCh37
NC_000019.8:g.6637169T>C	NCBI36
NG_009557.1:g.39494A>G , LRG_27:g.39494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2124A>G
ENST00000695652.1:c.3653A>G	ENSP00000512083.1:p.Gln1218Arg
ENST00000695653.1:c.1685A>G	ENSP00000512084.1:p.Gln562Arg
ENST00000695654.1:c.2801A>G	ENSP00000512085.1:p.Gln934Arg
ENST00000695655.1:c.2717A>G	ENSP00000512086.1:n.2717A>G
ENST00000695692.1:n.3140A>G
ENST00000245907.11:c.3776A>G MANE Select	ENSP00000245907.4:p.Gln1259Arg
ENST00000245907.10:c.3776A>G	ENSP00000245907.4:p.Gln1259Arg
ENST00000596238.1:n.219A>G
ENST00000601008.1:c.241+588A>G	ENSP00000471384.1:n.241+588A>G
NM_000064.3:c.3776A>G	NP_000055.2:p.Gln1259Arg
NM_000064.4:c.3776A>G MANE Select	NP_000055.2:p.Gln1259Arg