Canonical Allele Identifier: CA304786303
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs991739245

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697692dup , CM000681.2:g.6697692dup GRCh38
NC_000019.9:g.6697703dup , CM000681.1:g.6697703dup GRCh37
NC_000019.8:g.6648703dup NCBI36
NG_009557.1:g.27960dup , LRG_27:g.27960dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.891dup
ENST00000695652.1:c.2420dup ENSP00000512083.1:p.Ala808SerfsTer?
ENST00000695653.1:c.452dup ENSP00000512084.1:p.Ala152SerfsTer?
ENST00000695654.1:c.1667dup ENSP00000512085.1:p.Ala557SerfsTer?
ENST00000695655.1:c.1484dup ENSP00000512086.1:n.1484dup
ENST00000695692.1:n.1907dup
ENST00000245907.11:c.2543dup MANE Select ENSP00000245907.4:p.Ala849SerfsTer?
ENST00000245907.10:c.2543dup ENSP00000245907.4:p.Ala849SerfsTer?
ENST00000594005.1:n.24dup
ENST00000602053.1:n.591dup
NM_000064.3:c.2543dup NP_000055.2:p.Ala849SerfsTer?
NM_000064.4:c.2543dup MANE Select NP_000055.2:p.Ala849SerfsTer?