Canonical Allele Identifier: CA403620197
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686272T>G , CM000681.2:g.6686272T>G GRCh38
NC_000019.9:g.6686283T>G , CM000681.1:g.6686283T>G GRCh37
NC_000019.8:g.6637283T>G NCBI36
NG_009557.1:g.39380A>C , LRG_27:g.39380A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2010A>C
ENST00000695652.1:c.3539A>C ENSP00000512083.1:p.Glu1180Ala
ENST00000695653.1:c.1571A>C ENSP00000512084.1:p.Glu524Ala
ENST00000695654.1:c.2687A>C ENSP00000512085.1:p.Glu896Ala
ENST00000695655.1:c.2603A>C ENSP00000512086.1:n.2603A>C
ENST00000695692.1:n.3026A>C
ENST00000245907.11:c.3662A>C MANE Select ENSP00000245907.4:p.Glu1221Ala
ENST00000245907.10:c.3662A>C ENSP00000245907.4:p.Glu1221Ala
ENST00000596238.1:n.105A>C
ENST00000601008.1:c.241+474A>C ENSP00000471384.1:n.241+474A>C
NM_000064.3:c.3662A>C NP_000055.2:p.Glu1221Ala
NM_000064.4:c.3662A>C MANE Select NP_000055.2:p.Glu1221Ala