Canonical Allele Identifier: CA403612871
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679491T>A , CM000681.2:g.6679491T>A GRCh38
NC_000019.9:g.6679502T>A , CM000681.1:g.6679502T>A GRCh37
NC_000019.8:g.6630502T>A NCBI36
NG_009557.1:g.46161A>T , LRG_27:g.46161A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2810A>T
ENST00000695653.1:c.2371A>T ENSP00000512084.1:p.Ser791Cys
ENST00000695654.1:c.3487A>T ENSP00000512085.1:p.Ser1163Cys
ENST00000695689.1:c.433A>T ENSP00000512101.1:n.433A>T
ENST00000695690.1:n.1527A>T
ENST00000695691.1:n.1323A>T
ENST00000245907.11:c.4462A>T MANE Select ENSP00000245907.4:p.Ser1488Cys
ENST00000245907.10:c.4462A>T ENSP00000245907.4:p.Ser1488Cys
ENST00000599668.1:n.57A>T
ENST00000599899.5:n.1421A>T
ENST00000601008.1:c.242-1533A>T ENSP00000471384.1:n.242-1533A>T
NM_000064.3:c.4462A>T NP_000055.2:p.Ser1488Cys
NM_000064.4:c.4462A>T MANE Select NP_000055.2:p.Ser1488Cys