Canonical Allele Identifier: CA9128664

Gene: C3

Linked Data

• ClinVar Variation Id: 2152301
• ClinVar RCV Id: RCV003079225
• dbSNP Id: rs369542526
• ExAC: 19:6686289 C / T
• gnomAD v2: 19-6686289-C-T
• gnomAD v3: 19-6686278-C-T
• gnomAD v4: 19-6686278-C-T
• MyVariant Identifiers: chr19:g.6686289C>T (hg19) ; chr19:g.6686278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686278C>T , CM000681.2:g.6686278C>T	GRCh38
NC_000019.9:g.6686289C>T , CM000681.1:g.6686289C>T	GRCh37
NC_000019.8:g.6637289C>T	NCBI36
NG_009557.1:g.39374G>A , LRG_27:g.39374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2004G>A
ENST00000695652.1:c.3533G>A	ENSP00000512083.1:p.Arg1178His
ENST00000695653.1:c.1565G>A	ENSP00000512084.1:p.Arg522His
ENST00000695654.1:c.2681G>A	ENSP00000512085.1:p.Arg894His
ENST00000695655.1:c.2597G>A	ENSP00000512086.1:n.2597G>A
ENST00000695692.1:n.3020G>A
ENST00000245907.11:c.3656G>A MANE Select	ENSP00000245907.4:p.Arg1219His
ENST00000245907.10:c.3656G>A	ENSP00000245907.4:p.Arg1219His
ENST00000596238.1:n.99G>A
ENST00000601008.1:c.241+468G>A	ENSP00000471384.1:n.241+468G>A
NM_000064.3:c.3656G>A	NP_000055.2:p.Arg1219His
NM_000064.4:c.3656G>A MANE Select	NP_000055.2:p.Arg1219His