Canonical Allele Identifier: CA2576661553

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697315A>T , CM000681.2:g.6697315A>T	GRCh38
NC_000019.9:g.6697326A>T , CM000681.1:g.6697326A>T	GRCh37
NC_000019.8:g.6648326A>T	NCBI36
NG_009557.1:g.28337T>A , LRG_27:g.28337T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1144+29T>A
ENST00000695652.1:c.2673+29T>A	ENSP00000512083.1:n.2673+29T>A
ENST00000695653.1:c.705+29T>A	ENSP00000512084.1:n.705+29T>A
ENST00000695654.1:c.1920+29T>A	ENSP00000512085.1:n.1920+29T>A
ENST00000695655.1:c.1737+29T>A	ENSP00000512086.1:n.1737+29T>A
ENST00000695692.1:n.2160+29T>A
ENST00000245907.11:c.2796+29T>A MANE Select	ENSP00000245907.4:n.2796+29T>A
ENST00000245907.10:c.2796+29T>A	ENSP00000245907.4:n.2796+29T>A
ENST00000594005.1:n.372+29T>A
NM_000064.3:c.2796+29T>A	NP_000055.2:n.2796+29T>A
NM_000064.4:c.2796+29T>A MANE Select	NP_000055.2:n.2796+29T>A