Canonical Allele Identifier: CA403615466

Gene: C3

Linked Data

• ClinVar Variation Id: 1311296
• ClinVar RCV Id: RCV001758805
• dbSNP Id: rs2145393540
• MyVariant Identifiers: chr19:g.6682212A>T (hg19) ; chr19:g.6682201A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682201A>T , CM000681.2:g.6682201A>T	GRCh38
NC_000019.9:g.6682212A>T , CM000681.1:g.6682212A>T	GRCh37
NC_000019.8:g.6633212A>T	NCBI36
NG_009557.1:g.43451T>A , LRG_27:g.43451T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2549T>A
ENST00000695653.1:c.2110T>A	ENSP00000512084.1:p.Ser704Thr
ENST00000695654.1:c.3226T>A	ENSP00000512085.1:p.Ser1076Thr
ENST00000695689.1:c.172T>A	ENSP00000512101.1:n.172T>A
ENST00000695690.1:n.392T>A
ENST00000695691.1:n.392T>A
ENST00000245907.11:c.4201T>A MANE Select	ENSP00000245907.4:p.Ser1401Thr
ENST00000245907.10:c.4201T>A	ENSP00000245907.4:p.Ser1401Thr
ENST00000596548.1:c.322T>A	ENSP00000469744.1:p.Ser108Thr
ENST00000599899.5:n.1160T>A
ENST00000601008.1:c.242-4243T>A	ENSP00000471384.1:n.242-4243T>A
NM_000064.3:c.4201T>A	NP_000055.2:p.Ser1401Thr
NM_000064.4:c.4201T>A MANE Select	NP_000055.2:p.Ser1401Thr