Canonical Allele Identifier: CA9128661

Gene: C3

Linked Data

• dbSNP Id: rs777404805
• ExAC: 19:6686262 T / C
• gnomAD v2: 19-6686262-T-C
• gnomAD v4: 19-6686251-T-C
• MyVariant Identifiers: chr19:g.6686262T>C (hg19) ; chr19:g.6686251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686251T>C , CM000681.2:g.6686251T>C	GRCh38
NC_000019.9:g.6686262T>C , CM000681.1:g.6686262T>C	GRCh37
NC_000019.8:g.6637262T>C	NCBI36
NG_009557.1:g.39401A>G , LRG_27:g.39401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2031A>G
ENST00000695652.1:c.3560A>G	ENSP00000512083.1:p.Tyr1187Cys
ENST00000695653.1:c.1592A>G	ENSP00000512084.1:p.Tyr531Cys
ENST00000695654.1:c.2708A>G	ENSP00000512085.1:p.Tyr903Cys
ENST00000695655.1:c.2624A>G	ENSP00000512086.1:n.2624A>G
ENST00000695692.1:n.3047A>G
ENST00000245907.11:c.3683A>G MANE Select	ENSP00000245907.4:p.Tyr1228Cys
ENST00000245907.10:c.3683A>G	ENSP00000245907.4:p.Tyr1228Cys
ENST00000596238.1:n.126A>G
ENST00000601008.1:c.241+495A>G	ENSP00000471384.1:n.241+495A>G
NM_000064.3:c.3683A>G	NP_000055.2:p.Tyr1228Cys
NM_000064.4:c.3683A>G MANE Select	NP_000055.2:p.Tyr1228Cys