Canonical Allele Identifier: CA403633929
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697705G>A , CM000681.2:g.6697705G>A GRCh38
NC_000019.9:g.6697716G>A , CM000681.1:g.6697716G>A GRCh37
NC_000019.8:g.6648716G>A NCBI36
NG_009557.1:g.27947C>T , LRG_27:g.27947C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.878C>T
ENST00000695652.1:c.2407C>T ENSP00000512083.1:p.Gln803Ter
ENST00000695653.1:c.439C>T ENSP00000512084.1:p.Gln147Ter
ENST00000695654.1:c.1654C>T ENSP00000512085.1:p.Gln552Ter
ENST00000695655.1:c.1471C>T ENSP00000512086.1:n.1471C>T
ENST00000695692.1:n.1894C>T
ENST00000245907.11:c.2530C>T MANE Select ENSP00000245907.4:p.Gln844Ter
ENST00000245907.10:c.2530C>T ENSP00000245907.4:p.Gln844Ter
ENST00000594005.1:n.11C>T
ENST00000602053.1:n.578C>T
NM_000064.3:c.2530C>T NP_000055.2:p.Gln844Ter
NM_000064.4:c.2530C>T MANE Select NP_000055.2:p.Gln844Ter