Canonical Allele Identifier: CA403633695
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697657G>T , CM000681.2:g.6697657G>T GRCh38
NC_000019.9:g.6697668G>T , CM000681.1:g.6697668G>T GRCh37
NC_000019.8:g.6648668G>T NCBI36
NG_009557.1:g.27995C>A , LRG_27:g.27995C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.926C>A
ENST00000695652.1:c.2455C>A ENSP00000512083.1:p.Leu819Ile
ENST00000695653.1:c.487C>A ENSP00000512084.1:p.Leu163Ile
ENST00000695654.1:c.1702C>A ENSP00000512085.1:p.Leu568Ile
ENST00000695655.1:c.1519C>A ENSP00000512086.1:n.1519C>A
ENST00000695692.1:n.1942C>A
ENST00000245907.11:c.2578C>A MANE Select ENSP00000245907.4:p.Leu860Ile
ENST00000245907.10:c.2578C>A ENSP00000245907.4:p.Leu860Ile
ENST00000594005.1:n.59C>A
NM_000064.3:c.2578C>A NP_000055.2:p.Leu860Ile
NM_000064.4:c.2578C>A MANE Select NP_000055.2:p.Leu860Ile