Canonical Allele Identifier: CA10652279

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697785A>T , CM000681.2:g.6697785A>T	GRCh38
NC_000019.9:g.6697796A>T , CM000681.1:g.6697796A>T	GRCh37
NC_000019.8:g.6648796A>T	NCBI36
NG_009557.1:g.27867T>A , LRG_27:g.27867T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.2450T>A MANE Select	NP_000055.2:p.Val817Glu
ENST00000245907.11:c.2450T>A MANE Select	ENSP00000245907.4:p.Val817Glu
NM_000064.3:c.2450T>A	NP_000055.2:p.Val817Glu
ENST00000245907.10:c.2450T>A	ENSP00000245907.4:p.Val817Glu
ENST00000602053.1:n.498T>A
ENST00000695651.1:n.798T>A
ENST00000695652.1:c.2327T>A	ENSP00000512083.1:p.Val776Glu
ENST00000695653.1:c.359T>A	ENSP00000512084.1:p.Val120Glu
ENST00000695654.1:c.1574T>A	ENSP00000512085.1:p.Val525Glu
ENST00000695655.1:c.1391T>A	ENSP00000512086.1:n.1391T>A
ENST00000695692.1:n.1814T>A