Canonical Allele Identifier: CA403612546
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679409T>A , CM000681.2:g.6679409T>A GRCh38
NC_000019.9:g.6679420T>A , CM000681.1:g.6679420T>A GRCh37
NC_000019.8:g.6630420T>A NCBI36
NG_009557.1:g.46243A>T , LRG_27:g.46243A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2892A>T
ENST00000695653.1:c.2453A>T ENSP00000512084.1:p.Glu818Val
ENST00000695654.1:c.3569A>T ENSP00000512085.1:p.Glu1190Val
ENST00000695689.1:c.515A>T ENSP00000512101.1:n.515A>T
ENST00000695690.1:n.1609A>T
ENST00000695691.1:n.1405A>T
ENST00000245907.11:c.4544A>T MANE Select ENSP00000245907.4:p.Glu1515Val
ENST00000245907.10:c.4544A>T ENSP00000245907.4:p.Glu1515Val
ENST00000599668.1:n.139A>T
ENST00000599899.5:n.1503A>T
ENST00000601008.1:c.242-1451A>T ENSP00000471384.1:n.242-1451A>T
NM_000064.3:c.4544A>T NP_000055.2:p.Glu1515Val
NM_000064.4:c.4544A>T MANE Select NP_000055.2:p.Glu1515Val