Canonical Allele Identifier: CA993061814

Gene: C3

Linked Data

• dbSNP Id: rs1967559262
• gnomAD v3: 19-6697309-A-G
• gnomAD v4: 19-6697309-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697309A>G , CM000681.2:g.6697309A>G	GRCh38
NC_000019.9:g.6697320A>G , CM000681.1:g.6697320A>G	GRCh37
NC_000019.8:g.6648320A>G	NCBI36
NG_009557.1:g.28343T>C , LRG_27:g.28343T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1144+35T>C
ENST00000695652.1:c.2673+35T>C	ENSP00000512083.1:n.2673+35T>C
ENST00000695653.1:c.705+35T>C	ENSP00000512084.1:n.705+35T>C
ENST00000695654.1:c.1920+35T>C	ENSP00000512085.1:n.1920+35T>C
ENST00000695655.1:c.1737+35T>C	ENSP00000512086.1:n.1737+35T>C
ENST00000695692.1:n.2160+35T>C
ENST00000245907.11:c.2796+35T>C MANE Select	ENSP00000245907.4:n.2796+35T>C
ENST00000245907.10:c.2796+35T>C	ENSP00000245907.4:n.2796+35T>C
ENST00000594005.1:n.372+35T>C
NM_000064.3:c.2796+35T>C	NP_000055.2:n.2796+35T>C
NM_000064.4:c.2796+35T>C MANE Select	NP_000055.2:n.2796+35T>C