Canonical Allele Identifier: CA403641497
Community Standard Title: NM_000064.4(C3):c.1156C>T (p.Arg386Ter)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6712370G>A , CM000681.2:g.6712370G>A GRCh38
NC_000019.9:g.6712381G>A , CM000681.1:g.6712381G>A GRCh37
NC_000019.8:g.6663381G>A NCBI36
NG_009557.1:g.13282C>T , LRG_27:g.13282C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.1156C>T MANE Select NP_000055.2:p.Arg386Ter
ENST00000245907.11:c.1156C>T MANE Select ENSP00000245907.4:p.Arg386Ter
NM_000064.3:c.1156C>T NP_000055.2:p.Arg386Ter
ENST00000245907.10:c.1156C>T ENSP00000245907.4:p.Arg386Ter
ENST00000594270.5:n.259C>T
ENST00000595577.1:n.660C>T
ENST00000597442.5:n.406C>T
ENST00000695652.1:c.1033C>T ENSP00000512083.1:p.Arg345Ter
ENST00000695654.1:c.280C>T ENSP00000512085.1:p.Arg94Ter
ENST00000695655.1:c.37C>T ENSP00000512086.1:p.Arg13Ter
ENST00000695692.1:n.520C>T