Canonical Allele Identifier: CA403619953
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686245A>T , CM000681.2:g.6686245A>T GRCh38
NC_000019.9:g.6686256A>T , CM000681.1:g.6686256A>T GRCh37
NC_000019.8:g.6637256A>T NCBI36
NG_009557.1:g.39407T>A , LRG_27:g.39407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2037T>A
ENST00000695652.1:c.3566T>A ENSP00000512083.1:p.Val1189Glu
ENST00000695653.1:c.1598T>A ENSP00000512084.1:p.Val533Glu
ENST00000695654.1:c.2714T>A ENSP00000512085.1:p.Val905Glu
ENST00000695655.1:c.2630T>A ENSP00000512086.1:n.2630T>A
ENST00000695692.1:n.3053T>A
ENST00000245907.11:c.3689T>A MANE Select ENSP00000245907.4:p.Val1230Glu
ENST00000245907.10:c.3689T>A ENSP00000245907.4:p.Val1230Glu
ENST00000596238.1:n.132T>A
ENST00000601008.1:c.241+501T>A ENSP00000471384.1:n.241+501T>A
NM_000064.3:c.3689T>A NP_000055.2:p.Val1230Glu
NM_000064.4:c.3689T>A MANE Select NP_000055.2:p.Val1230Glu