Canonical Allele Identifier: CA403619390
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686140C>G , CM000681.2:g.6686140C>G GRCh38
NC_000019.9:g.6686151C>G , CM000681.1:g.6686151C>G GRCh37
NC_000019.8:g.6637151C>G NCBI36
NG_009557.1:g.39512G>C , LRG_27:g.39512G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2142G>C
ENST00000695652.1:c.3671G>C ENSP00000512083.1:p.Gly1224Ala
ENST00000695653.1:c.1703G>C ENSP00000512084.1:p.Gly568Ala
ENST00000695654.1:c.2819G>C ENSP00000512085.1:p.Gly940Ala
ENST00000695655.1:c.2735G>C ENSP00000512086.1:n.2735G>C
ENST00000695692.1:n.3158G>C
ENST00000245907.11:c.3794G>C MANE Select ENSP00000245907.4:p.Gly1265Ala
ENST00000245907.10:c.3794G>C ENSP00000245907.4:p.Gly1265Ala
ENST00000596238.1:n.237G>C
ENST00000601008.1:c.241+606G>C ENSP00000471384.1:n.241+606G>C
NM_000064.3:c.3794G>C NP_000055.2:p.Gly1265Ala
NM_000064.4:c.3794G>C MANE Select NP_000055.2:p.Gly1265Ala