Canonical Allele Identifier: CA403619489
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686159G>T , CM000681.2:g.6686159G>T GRCh38
NC_000019.9:g.6686170G>T , CM000681.1:g.6686170G>T GRCh37
NC_000019.8:g.6637170G>T NCBI36
NG_009557.1:g.39493C>A , LRG_27:g.39493C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2123C>A
ENST00000695652.1:c.3652C>A ENSP00000512083.1:p.Gln1218Lys
ENST00000695653.1:c.1684C>A ENSP00000512084.1:p.Gln562Lys
ENST00000695654.1:c.2800C>A ENSP00000512085.1:p.Gln934Lys
ENST00000695655.1:c.2716C>A ENSP00000512086.1:n.2716C>A
ENST00000695692.1:n.3139C>A
ENST00000245907.11:c.3775C>A MANE Select ENSP00000245907.4:p.Gln1259Lys
ENST00000245907.10:c.3775C>A ENSP00000245907.4:p.Gln1259Lys
ENST00000596238.1:n.218C>A
ENST00000601008.1:c.241+587C>A ENSP00000471384.1:n.241+587C>A
NM_000064.3:c.3775C>A NP_000055.2:p.Gln1259Lys
NM_000064.4:c.3775C>A MANE Select NP_000055.2:p.Gln1259Lys