Canonical Allele Identifier: CA9128437

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681972T>G , CM000681.2:g.6681972T>G	GRCh38
NC_000019.9:g.6681983T>G , CM000681.1:g.6681983T>G	GRCh37
NC_000019.8:g.6632983T>G	NCBI36
NG_009557.1:g.43680A>C , LRG_27:g.43680A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4319A>C MANE Select	NP_000055.2:p.Asp1440Ala
ENST00000245907.11:c.4319A>C MANE Select	ENSP00000245907.4:p.Asp1440Ala
NM_000064.3:c.4319A>C	NP_000055.2:p.Asp1440Ala
ENST00000245907.10:c.4319A>C	ENSP00000245907.4:p.Asp1440Ala
ENST00000596548.1:c.440A>C	ENSP00000469744.1:p.Asp147Ala
ENST00000599899.5:n.1278A>C
ENST00000601008.1:c.242-4014A>C	ENSP00000471384.1:n.242-4014A>C
ENST00000695651.1:n.2667A>C
ENST00000695653.1:c.2228A>C	ENSP00000512084.1:p.Asp743Ala
ENST00000695654.1:c.3344A>C	ENSP00000512085.1:p.Asp1115Ala
ENST00000695689.1:c.290A>C	ENSP00000512101.1:n.290A>C
ENST00000695690.1:n.510A>C
ENST00000695691.1:n.510A>C