Canonical Allele Identifier: CA2839808010
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713190dup , CM000681.2:g.6713190dup GRCh38
NC_000019.9:g.6713201dup , CM000681.1:g.6713201dup GRCh37
NC_000019.8:g.6664201dup NCBI36
NG_009557.1:g.12462dup , LRG_27:g.12462dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.879dup ENSP00000512083.1:p.Gly294ArgfsTer3
ENST00000695654.1:c.126dup ENSP00000512085.1:p.Gly43ArgfsTer3
ENST00000695692.1:n.326dup
ENST00000245907.11:c.1002dup MANE Select ENSP00000245907.4:p.Gly335ArgfsTer3
ENST00000245907.10:c.1002dup ENSP00000245907.4:p.Gly335ArgfsTer3
ENST00000594270.5:n.126dup
ENST00000595577.1:n.506dup
ENST00000597442.5:n.252dup
NM_000064.3:c.1002dup NP_000055.2:p.Gly335ArgfsTer3
NM_000064.4:c.1002dup MANE Select NP_000055.2:p.Gly335ArgfsTer3