Canonical Allele Identifier: CA9128471

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682145C>T , CM000681.2:g.6682145C>T	GRCh38
NC_000019.9:g.6682156C>T , CM000681.1:g.6682156C>T	GRCh37
NC_000019.8:g.6633156C>T	NCBI36
NG_009557.1:g.43507G>A , LRG_27:g.43507G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4257G>A MANE Select	NP_000055.2:p.Lys1419=
ENST00000245907.11:c.4257G>A MANE Select	ENSP00000245907.4:p.Lys1419=
NM_000064.3:c.4257G>A	NP_000055.2:p.Lys1419=
ENST00000245907.10:c.4257G>A	ENSP00000245907.4:p.Lys1419=
ENST00000596548.1:c.378G>A	ENSP00000469744.1:p.Lys126=
ENST00000599899.5:n.1216G>A
ENST00000601008.1:c.242-4187G>A	ENSP00000471384.1:n.242-4187G>A
ENST00000695651.1:n.2605G>A
ENST00000695653.1:c.2166G>A	ENSP00000512084.1:p.Lys722=
ENST00000695654.1:c.3282G>A	ENSP00000512085.1:p.Lys1094=
ENST00000695689.1:c.228G>A	ENSP00000512101.1:n.228G>A
ENST00000695690.1:n.448G>A
ENST00000695691.1:n.448G>A