Canonical Allele Identifier: CA403619496
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686161T>A , CM000681.2:g.6686161T>A GRCh38
NC_000019.9:g.6686172T>A , CM000681.1:g.6686172T>A GRCh37
NC_000019.8:g.6637172T>A NCBI36
NG_009557.1:g.39491A>T , LRG_27:g.39491A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2121A>T
ENST00000695652.1:c.3650A>T ENSP00000512083.1:p.Glu1217Val
ENST00000695653.1:c.1682A>T ENSP00000512084.1:p.Glu561Val
ENST00000695654.1:c.2798A>T ENSP00000512085.1:p.Glu933Val
ENST00000695655.1:c.2714A>T ENSP00000512086.1:n.2714A>T
ENST00000695692.1:n.3137A>T
ENST00000245907.11:c.3773A>T MANE Select ENSP00000245907.4:p.Glu1258Val
ENST00000245907.10:c.3773A>T ENSP00000245907.4:p.Glu1258Val
ENST00000596238.1:n.216A>T
ENST00000601008.1:c.241+585A>T ENSP00000471384.1:n.241+585A>T
NM_000064.3:c.3773A>T NP_000055.2:p.Glu1258Val
NM_000064.4:c.3773A>T MANE Select NP_000055.2:p.Glu1258Val