Canonical Allele Identifier: CA9128262

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678235C>T , CM000681.2:g.6678235C>T	GRCh38
NC_000019.9:g.6678246C>T , CM000681.1:g.6678246C>T	GRCh37
NC_000019.8:g.6629246C>T	NCBI36
NG_009557.1:g.47417G>A , LRG_27:g.47417G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4767G>A MANE Select	NP_000055.2:p.Lys1589=
ENST00000245907.11:c.4767G>A MANE Select	ENSP00000245907.4:p.Lys1589=
NM_000064.3:c.4767G>A	NP_000055.2:p.Lys1589=
ENST00000245907.10:c.4767G>A	ENSP00000245907.4:p.Lys1589=
ENST00000599668.1:n.387G>A
ENST00000599899.5:n.1726G>A
ENST00000601008.1:c.242-277G>A	ENSP00000471384.1:n.242-277G>A
ENST00000601475.1:n.96G>A
ENST00000602229.1:c.214G>A
ENST00000695651.1:n.3115G>A
ENST00000695653.1:c.2676G>A	ENSP00000512084.1:p.Lys892=
ENST00000695654.1:c.3792G>A	ENSP00000512085.1:p.Lys1264=
ENST00000695689.1:c.738G>A	ENSP00000512101.1:n.738G>A
ENST00000695690.1:n.1832G>A
ENST00000695691.1:n.1628G>A