Canonical Allele Identifier: CA2320559220
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967571596

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697781_6697782insC , CM000681.2:g.6697781_6697782insC GRCh38
NC_000019.9:g.6697792_6697793insC , CM000681.1:g.6697792_6697793insC GRCh37
NC_000019.8:g.6648792_6648793insC NCBI36
NG_009557.1:g.27870_27871insG , LRG_27:g.27870_27871insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.801_802insG
ENST00000695652.1:c.2330_2331insG ENSP00000512083.1:p.Asp778ArgfsTer?
ENST00000695653.1:c.362_363insG ENSP00000512084.1:p.Asp122ArgfsTer?
ENST00000695654.1:c.1577_1578insG ENSP00000512085.1:p.Asp527ArgfsTer?
ENST00000695655.1:c.1394_1395insG ENSP00000512086.1:n.1394_1395insG
ENST00000695692.1:n.1817_1818insG
ENST00000245907.11:c.2453_2454insG MANE Select ENSP00000245907.4:p.Asp819ArgfsTer?
ENST00000245907.10:c.2453_2454insG ENSP00000245907.4:p.Asp819ArgfsTer?
ENST00000602053.1:n.501_502insG
NM_000064.3:c.2453_2454insG NP_000055.2:p.Asp819ArgfsTer?
NM_000064.4:c.2453_2454insG MANE Select NP_000055.2:p.Asp819ArgfsTer?