Canonical Allele Identifier: CA9128665

Gene: C3

Linked Data

• dbSNP Id: rs369542526
• ExAC: 19:6686289 C / A
• gnomAD v2: 19-6686289-C-A
• gnomAD v3: 19-6686278-C-A
• gnomAD v4: 19-6686278-C-A
• COSMIC: COSM6152434
• MyVariant Identifiers: chr19:g.6686289C>A (hg19) ; chr19:g.6686278C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2004G>T
ENST00000695652.1:c.3533G>T	ENSP00000512083.1:p.Arg1178Leu
ENST00000695653.1:c.1565G>T	ENSP00000512084.1:p.Arg522Leu
ENST00000695654.1:c.2681G>T	ENSP00000512085.1:p.Arg894Leu
ENST00000695655.1:c.2597G>T	ENSP00000512086.1:n.2597G>T
ENST00000695692.1:n.3020G>T
ENST00000245907.11:c.3656G>T MANE Select	ENSP00000245907.4:p.Arg1219Leu
ENST00000245907.10:c.3656G>T	ENSP00000245907.4:p.Arg1219Leu
ENST00000596238.1:n.99G>T
ENST00000601008.1:c.241+468G>T	ENSP00000471384.1:n.241+468G>T
NM_000064.3:c.3656G>T	NP_000055.2:p.Arg1219Leu
NM_000064.4:c.3656G>T MANE Select	NP_000055.2:p.Arg1219Leu