Canonical Allele Identifier: CA645620272
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713315dup , CM000681.2:g.6713315dup GRCh38
NC_000019.9:g.6713326dup , CM000681.1:g.6713326dup GRCh37
NC_000019.8:g.6664326dup NCBI36
NG_009557.1:g.12337dup , LRG_27:g.12337dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.754dup ENSP00000512083.1:p.Ile252AsnfsTer2
ENST00000695654.1:c.1dup ENSP00000512085.1:p.Ile1AsnfsTer2
ENST00000695692.1:n.201dup
ENST00000245907.11:c.877dup MANE Select ENSP00000245907.4:p.Ile293AsnfsTer2
ENST00000245907.10:c.877dup ENSP00000245907.4:p.Ile293AsnfsTer2
ENST00000594270.5:n.1dup
ENST00000595577.1:n.381dup
ENST00000597442.5:n.127dup
NM_000064.3:c.877dup NP_000055.2:p.Ile293AsnfsTer2
NM_000064.4:c.877dup MANE Select NP_000055.2:p.Ile293AsnfsTer2