Canonical Allele Identifier: CA403619685
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686193G>C , CM000681.2:g.6686193G>C GRCh38
NC_000019.9:g.6686204G>C , CM000681.1:g.6686204G>C GRCh37
NC_000019.8:g.6637204G>C NCBI36
NG_009557.1:g.39459C>G , LRG_27:g.39459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2089C>G
ENST00000695652.1:c.3618C>G ENSP00000512083.1:p.Asp1206Glu
ENST00000695653.1:c.1650C>G ENSP00000512084.1:p.Asp550Glu
ENST00000695654.1:c.2766C>G ENSP00000512085.1:p.Asp922Glu
ENST00000695655.1:c.2682C>G ENSP00000512086.1:n.2682C>G
ENST00000695692.1:n.3105C>G
ENST00000245907.11:c.3741C>G MANE Select ENSP00000245907.4:p.Asp1247Glu
ENST00000245907.10:c.3741C>G ENSP00000245907.4:p.Asp1247Glu
ENST00000596238.1:n.184C>G
ENST00000601008.1:c.241+553C>G ENSP00000471384.1:n.241+553C>G
NM_000064.3:c.3741C>G NP_000055.2:p.Asp1247Glu
NM_000064.4:c.3741C>G MANE Select NP_000055.2:p.Asp1247Glu