Canonical Allele Identifier: CA403612847
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679479A>C , CM000681.2:g.6679479A>C GRCh38
NC_000019.9:g.6679490A>C , CM000681.1:g.6679490A>C GRCh37
NC_000019.8:g.6630490A>C NCBI36
NG_009557.1:g.46173T>G , LRG_27:g.46173T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2822T>G
ENST00000695653.1:c.2383T>G ENSP00000512084.1:p.Phe795Val
ENST00000695654.1:c.3499T>G ENSP00000512085.1:p.Phe1167Val
ENST00000695689.1:c.445T>G ENSP00000512101.1:n.445T>G
ENST00000695690.1:n.1539T>G
ENST00000695691.1:n.1335T>G
ENST00000245907.11:c.4474T>G MANE Select ENSP00000245907.4:p.Phe1492Val
ENST00000245907.10:c.4474T>G ENSP00000245907.4:p.Phe1492Val
ENST00000599668.1:n.69T>G
ENST00000599899.5:n.1433T>G
ENST00000601008.1:c.242-1521T>G ENSP00000471384.1:n.242-1521T>G
NM_000064.3:c.4474T>G NP_000055.2:p.Phe1492Val
NM_000064.4:c.4474T>G MANE Select NP_000055.2:p.Phe1492Val