Canonical Allele Identifier: CA403619578
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686176A>C , CM000681.2:g.6686176A>C GRCh38
NC_000019.9:g.6686187A>C , CM000681.1:g.6686187A>C GRCh37
NC_000019.8:g.6637187A>C NCBI36
NG_009557.1:g.39476T>G , LRG_27:g.39476T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2106T>G
ENST00000695652.1:c.3635T>G ENSP00000512083.1:p.Val1212Gly
ENST00000695653.1:c.1667T>G ENSP00000512084.1:p.Val556Gly
ENST00000695654.1:c.2783T>G ENSP00000512085.1:p.Val928Gly
ENST00000695655.1:c.2699T>G ENSP00000512086.1:n.2699T>G
ENST00000695692.1:n.3122T>G
ENST00000245907.11:c.3758T>G MANE Select ENSP00000245907.4:p.Val1253Gly
ENST00000245907.10:c.3758T>G ENSP00000245907.4:p.Val1253Gly
ENST00000596238.1:n.201T>G
ENST00000601008.1:c.241+570T>G ENSP00000471384.1:n.241+570T>G
NM_000064.3:c.3758T>G NP_000055.2:p.Val1253Gly
NM_000064.4:c.3758T>G MANE Select NP_000055.2:p.Val1253Gly