Canonical Allele Identifier: CA2320559092
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967564785

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697497dup , CM000681.2:g.6697497dup GRCh38
NC_000019.9:g.6697508dup , CM000681.1:g.6697508dup GRCh37
NC_000019.8:g.6648508dup NCBI36
NG_009557.1:g.28155dup , LRG_27:g.28155dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.991dup
ENST00000695652.1:c.2520dup ENSP00000512083.1:p.His841SerfsTer?
ENST00000695653.1:c.552dup ENSP00000512084.1:p.His185SerfsTer?
ENST00000695654.1:c.1767dup ENSP00000512085.1:p.His590SerfsTer?
ENST00000695655.1:c.1584dup ENSP00000512086.1:n.1584dup
ENST00000695692.1:n.2007dup
ENST00000245907.11:c.2643dup MANE Select ENSP00000245907.4:p.His882SerfsTer?
ENST00000245907.10:c.2643dup ENSP00000245907.4:p.His882SerfsTer?
ENST00000594005.1:n.219dup
NM_000064.3:c.2643dup NP_000055.2:p.His882SerfsTer?
NM_000064.4:c.2643dup MANE Select NP_000055.2:p.His882SerfsTer?