Canonical Allele Identifier: CA677926

Gene: C1QC

Linked Data

• ClinVar Variation Id: 17070
• ClinVar RCV Id: RCV000018599 ; RCV001390253
• dbSNP Id: rs377549148
• ExAC: 1:22973743 C / T
• gnomAD v2: 1-22973743-C-T
• gnomAD v3: 1-22647250-C-T
• gnomAD v4: 1-22647250-C-T
• MyVariant Identifiers: chr1:g.22973743C>T (hg19) ; chr1:g.22647250C>T (hg38)
• PubMed: PMID:8630118 ; PMID:21654842

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22647250C>T , CM000663.2:g.22647250C>T	GRCh38
NC_000001.10:g.22973743C>T , CM000663.1:g.22973743C>T	GRCh37
NC_000001.9:g.22846330C>T	NCBI36
NG_007565.1:g.8626C>T , LRG_24:g.8626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695749.1:c.-63C>T	ENSP00000512142.1:n.-63C>T
ENST00000695750.1:c.*177C>T	ENSP00000512143.1:n.*177C>T
ENST00000695751.1:c.205C>T	ENSP00000512144.1:p.Arg69Ter
ENST00000695752.1:c.290C>T	ENSP00000512145.1:p.Pro97Leu
ENST00000695753.1:c.-63C>T	ENSP00000512146.1:n.-63C>T
ENST00000374640.9:c.205C>T MANE Select	ENSP00000363771.4:p.Arg69Ter
ENST00000374637.1:c.205C>T	ENSP00000363768.1:p.Arg69Ter
ENST00000374639.7:c.205C>T	ENSP00000363770.3:p.Arg69Ter
ENST00000374640.8:c.205C>T	ENSP00000363771.4:p.Arg69Ter
NM_001114101.1:c.205C>T , LRG_24t1:c.205C>T	NP_001107573.1:p.Arg69Ter
NM_172369.3:c.205C>T	NP_758957.2:p.Arg69Ter
NM_001114101.2:c.205C>T	NP_001107573.1:p.Arg69Ter
NM_001347619.1:c.205C>T	NP_001334548.1:p.Arg69Ter
NM_001347620.1:c.-63C>T	NP_001334549.1:n.-63C>T
NM_172369.4:c.205C>T	NP_758957.2:p.Arg69Ter
NM_172369.5:c.205C>T MANE Select	NP_758957.2:p.Arg69Ter
NM_001114101.3:c.205C>T	NP_001107573.1:p.Arg69Ter
NM_001347619.2:c.205C>T	NP_001334548.1:p.Arg69Ter
NM_001347620.2:c.-63C>T	NP_001334549.1:n.-63C>T