Canonical Allele Identifier: CA403619505
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686162C>G , CM000681.2:g.6686162C>G GRCh38
NC_000019.9:g.6686173C>G , CM000681.1:g.6686173C>G GRCh37
NC_000019.8:g.6637173C>G NCBI36
NG_009557.1:g.39490G>C , LRG_27:g.39490G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2120G>C
ENST00000695652.1:c.3649G>C ENSP00000512083.1:p.Glu1217Gln
ENST00000695653.1:c.1681G>C ENSP00000512084.1:p.Glu561Gln
ENST00000695654.1:c.2797G>C ENSP00000512085.1:p.Glu933Gln
ENST00000695655.1:c.2713G>C ENSP00000512086.1:n.2713G>C
ENST00000695692.1:n.3136G>C
ENST00000245907.11:c.3772G>C MANE Select ENSP00000245907.4:p.Glu1258Gln
ENST00000245907.10:c.3772G>C ENSP00000245907.4:p.Glu1258Gln
ENST00000596238.1:n.215G>C
ENST00000601008.1:c.241+584G>C ENSP00000471384.1:n.241+584G>C
NM_000064.3:c.3772G>C NP_000055.2:p.Glu1258Gln
NM_000064.4:c.3772G>C MANE Select NP_000055.2:p.Glu1258Gln