Canonical Allele Identifier: CA2320553461

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686190A= , CM000681.2:g.6686190A=	GRCh38
NC_000019.9:g.6686201A= , CM000681.1:g.6686201A=	GRCh37
NC_000019.8:g.6637201A=	NCBI36
NG_009557.1:g.39462T= , LRG_27:g.39462T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2092T=
ENST00000695652.1:c.3621T=	ENSP00000512083.1:p.Phe1207=
ENST00000695653.1:c.1653T=	ENSP00000512084.1:p.Phe551=
ENST00000695654.1:c.2769T=	ENSP00000512085.1:p.Phe923=
ENST00000695655.1:c.2685T=	ENSP00000512086.1:n.2685T=
ENST00000695692.1:n.3108T=
ENST00000245907.11:c.3744T= MANE Select	ENSP00000245907.4:p.Phe1248=
ENST00000245907.10:c.3744T=	ENSP00000245907.4:p.Phe1248=
ENST00000596238.1:n.187T=
ENST00000601008.1:c.241+556T=	ENSP00000471384.1:n.241+556T=
NM_000064.3:c.3744T=	NP_000055.2:p.Phe1248=
NM_000064.4:c.3744T= MANE Select	NP_000055.2:p.Phe1248=