Canonical Allele Identifier: CA403619674
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686191A>T , CM000681.2:g.6686191A>T GRCh38
NC_000019.9:g.6686202A>T , CM000681.1:g.6686202A>T GRCh37
NC_000019.8:g.6637202A>T NCBI36
NG_009557.1:g.39461T>A , LRG_27:g.39461T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2091T>A
ENST00000695652.1:c.3620T>A ENSP00000512083.1:p.Phe1207Tyr
ENST00000695653.1:c.1652T>A ENSP00000512084.1:p.Phe551Tyr
ENST00000695654.1:c.2768T>A ENSP00000512085.1:p.Phe923Tyr
ENST00000695655.1:c.2684T>A ENSP00000512086.1:n.2684T>A
ENST00000695692.1:n.3107T>A
ENST00000245907.11:c.3743T>A MANE Select ENSP00000245907.4:p.Phe1248Tyr
ENST00000245907.10:c.3743T>A ENSP00000245907.4:p.Phe1248Tyr
ENST00000596238.1:n.186T>A
ENST00000601008.1:c.241+555T>A ENSP00000471384.1:n.241+555T>A
NM_000064.3:c.3743T>A NP_000055.2:p.Phe1248Tyr
NM_000064.4:c.3743T>A MANE Select NP_000055.2:p.Phe1248Tyr