Canonical Allele Identifier: CA9129195

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6707254C>T , CM000681.2:g.6707254C>T	GRCh38
NC_000019.9:g.6707265C>T , CM000681.1:g.6707265C>T	GRCh37
NC_000019.8:g.6658265C>T	NCBI36
NG_009557.1:g.18398G>A , LRG_27:g.18398G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.2067G>A MANE Select	NP_000055.2:p.Glu689=
ENST00000245907.11:c.2067G>A MANE Select	ENSP00000245907.4:p.Glu689=
NM_000064.3:c.2067G>A	NP_000055.2:p.Glu689=
ENST00000245907.10:c.2067G>A	ENSP00000245907.4:p.Glu689=
ENST00000695651.1:n.338G>A
ENST00000695652.1:c.1944G>A	ENSP00000512083.1:p.Glu648=
ENST00000695653.1:c.-25G>A	ENSP00000512084.1:n.-25G>A
ENST00000695654.1:c.1191G>A	ENSP00000512085.1:p.Glu397=
ENST00000695655.1:c.1008G>A	ENSP00000512086.1:n.1008G>A
ENST00000695692.1:n.1431G>A