Canonical Allele Identifier: CA403633409

Gene: C3

Linked Data

• ClinVar Variation Id: 894778
• ClinVar RCV Id: RCV001136443 ; RCV001136442 ; RCV001136444
• dbSNP Id: rs1967565177
• MyVariant Identifiers: chr19:g.6697534A>G (hg19) ; chr19:g.6697523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697523A>G , CM000681.2:g.6697523A>G	GRCh38
NC_000019.9:g.6697534A>G , CM000681.1:g.6697534A>G	GRCh37
NC_000019.8:g.6648534A>G	NCBI36
NG_009557.1:g.28129T>C , LRG_27:g.28129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.965T>C
ENST00000695652.1:c.2494T>C	ENSP00000512083.1:p.Cys832Arg
ENST00000695653.1:c.526T>C	ENSP00000512084.1:p.Cys176Arg
ENST00000695654.1:c.1741T>C	ENSP00000512085.1:p.Cys581Arg
ENST00000695655.1:c.1558T>C	ENSP00000512086.1:n.1558T>C
ENST00000695692.1:n.1981T>C
ENST00000245907.11:c.2617T>C MANE Select	ENSP00000245907.4:p.Cys873Arg
ENST00000245907.10:c.2617T>C	ENSP00000245907.4:p.Cys873Arg
ENST00000594005.1:n.193T>C
NM_000064.3:c.2617T>C	NP_000055.2:p.Cys873Arg
NM_000064.4:c.2617T>C MANE Select	NP_000055.2:p.Cys873Arg