Canonical Allele Identifier: CA677928

Gene: C1QC

Linked Data

• ClinVar Variation Id: 17069
• ClinVar RCV Id: RCV002514111 ; RCV003221348
• dbSNP Id: rs761681612
• ExAC: 1:22973748 AC / A
• gnomAD v2: 1-22973748-AC-A
• gnomAD v3: 1-22647255-AC-A
• gnomAD v4: 1-22647255-AC-A
• COSMIC: COSM1683738 ; COSM1997582
• MyVariant Identifiers: chr1:g.22973751del (hg19) ; chr1:g.22973749del (hg19) ; chr1:g.22647258del (hg38) ; chr1:g.22647256del (hg38)
• PubMed: PMID:8630118

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22647258del , CM000663.2:g.22647258del	GRCh38
NC_000001.10:g.22973751del , CM000663.1:g.22973751del	GRCh37
NC_000001.9:g.22846338del	NCBI36
NG_007565.1:g.8634del , LRG_24:g.8634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695749.1:c.-55del	ENSP00000512142.1:n.-55del
ENST00000695750.1:c.*185del	ENSP00000512143.1:n.*185del
ENST00000695751.1:c.213del	ENSP00000512144.1:p.Gln74ArgfsTer?
ENST00000695752.1:c.298del	ENSP00000512145.1:p.Gln100LysfsTer?
ENST00000695753.1:c.-55del	ENSP00000512146.1:n.-55del
ENST00000374640.9:c.213del MANE Select	ENSP00000363771.4:p.Gln74ArgfsTer?
ENST00000374637.1:c.213del	ENSP00000363768.1:p.Gln74ArgfsTer?
ENST00000374639.7:c.213del	ENSP00000363770.3:p.Gln74ArgfsTer?
ENST00000374640.8:c.213del	ENSP00000363771.4:p.Gln74ArgfsTer?
NM_001114101.1:c.213del , LRG_24t1:c.213del	NP_001107573.1:p.Gln74ArgfsTer?
NM_172369.3:c.213del	NP_758957.2:p.Gln74ArgfsTer?
NM_001114101.2:c.213del	NP_001107573.1:p.Gln74ArgfsTer?
NM_001347619.1:c.213del	NP_001334548.1:p.Gln74ArgfsTer?
NM_001347620.1:c.-55del	NP_001334549.1:n.-55del
NM_172369.4:c.213del	NP_758957.2:p.Gln74ArgfsTer?
NM_172369.5:c.213del MANE Select	NP_758957.2:p.Gln74ArgfsTer?
NM_001114101.3:c.213del	NP_001107573.1:p.Gln74ArgfsTer?
NM_001347619.2:c.213del	NP_001334548.1:p.Gln74ArgfsTer?
NM_001347620.2:c.-55del	NP_001334549.1:n.-55del