Canonical Allele Identifier: CA9128666

Gene: C3

Linked Data

• ClinVar Variation Id: 1348619
• ClinVar RCV Id: RCV002050873 ; RCV002482421
• dbSNP Id: rs373102036
• ExAC: 19:6686290 G / A
• gnomAD v2: 19-6686290-G-A
• gnomAD v3: 19-6686279-G-A
• gnomAD v4: 19-6686279-G-A
• MyVariant Identifiers: chr19:g.6686290G>A (hg19) ; chr19:g.6686279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686279G>A , CM000681.2:g.6686279G>A	GRCh38
NC_000019.9:g.6686290G>A , CM000681.1:g.6686290G>A	GRCh37
NC_000019.8:g.6637290G>A	NCBI36
NG_009557.1:g.39373C>T , LRG_27:g.39373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2003C>T
ENST00000695652.1:c.3532C>T	ENSP00000512083.1:p.Arg1178Cys
ENST00000695653.1:c.1564C>T	ENSP00000512084.1:p.Arg522Cys
ENST00000695654.1:c.2680C>T	ENSP00000512085.1:p.Arg894Cys
ENST00000695655.1:c.2596C>T	ENSP00000512086.1:n.2596C>T
ENST00000695692.1:n.3019C>T
ENST00000245907.11:c.3655C>T MANE Select	ENSP00000245907.4:p.Arg1219Cys
ENST00000245907.10:c.3655C>T	ENSP00000245907.4:p.Arg1219Cys
ENST00000596238.1:n.98C>T
ENST00000601008.1:c.241+467C>T	ENSP00000471384.1:n.241+467C>T
NM_000064.3:c.3655C>T	NP_000055.2:p.Arg1219Cys
NM_000064.4:c.3655C>T MANE Select	NP_000055.2:p.Arg1219Cys