Canonical Allele Identifier: CA403619399

Gene: C3

Linked Data

• ClinVar Variation Id: 892708
• ClinVar RCV Id: RCV001129148 ; RCV001129147 ; RCV001129149
• dbSNP Id: rs1918001974
• MyVariant Identifiers: chr19:g.6686152C>T (hg19) ; chr19:g.6686141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686141C>T , CM000681.2:g.6686141C>T	GRCh38
NC_000019.9:g.6686152C>T , CM000681.1:g.6686152C>T	GRCh37
NC_000019.8:g.6637152C>T	NCBI36
NG_009557.1:g.39511G>A , LRG_27:g.39511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2141G>A
ENST00000695652.1:c.3670G>A	ENSP00000512083.1:p.Gly1224Ser
ENST00000695653.1:c.1702G>A	ENSP00000512084.1:p.Gly568Ser
ENST00000695654.1:c.2818G>A	ENSP00000512085.1:p.Gly940Ser
ENST00000695655.1:c.2734G>A	ENSP00000512086.1:n.2734G>A
ENST00000695692.1:n.3157G>A
ENST00000245907.11:c.3793G>A MANE Select	ENSP00000245907.4:p.Gly1265Ser
ENST00000245907.10:c.3793G>A	ENSP00000245907.4:p.Gly1265Ser
ENST00000596238.1:n.236G>A
ENST00000601008.1:c.241+605G>A	ENSP00000471384.1:n.241+605G>A
NM_000064.3:c.3793G>A	NP_000055.2:p.Gly1265Ser
NM_000064.4:c.3793G>A MANE Select	NP_000055.2:p.Gly1265Ser