Canonical Allele Identifier: CA2587875389

Gene: C3

Linked Data

• gnomAD v4: 19-6697285-T-TACG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697287_6697289dup , CM000681.2:g.6697287_6697289dup	GRCh38
NC_000019.9:g.6697298_6697300dup , CM000681.1:g.6697298_6697300dup	GRCh37
NC_000019.8:g.6648298_6648300dup	NCBI36
NG_009557.1:g.28364_28366dup , LRG_27:g.28364_28366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1144+56_1144+58dup
ENST00000695652.1:c.2673+56_2673+58dup	ENSP00000512083.1:n.2673+56_2673+58dup
ENST00000695653.1:c.705+56_705+58dup	ENSP00000512084.1:n.705+56_705+58dup
ENST00000695654.1:c.1920+56_1920+58dup	ENSP00000512085.1:n.1920+56_1920+58dup
ENST00000695655.1:c.1737+56_1737+58dup	ENSP00000512086.1:n.1737+56_1737+58dup
ENST00000695692.1:n.2160+56_2160+58dup
ENST00000245907.11:c.2796+56_2796+58dup MANE Select	ENSP00000245907.4:n.2796+56_2796+58dup
ENST00000245907.10:c.2796+56_2796+58dup	ENSP00000245907.4:n.2796+56_2796+58dup
ENST00000594005.1:n.372+56_372+58dup
NM_000064.3:c.2796+56_2796+58dup	NP_000055.2:n.2796+56_2796+58dup
NM_000064.4:c.2796+56_2796+58dup MANE Select	NP_000055.2:n.2796+56_2796+58dup