Canonical Allele Identifier: CA677888

Gene: C1QC

Linked Data

• ClinVar Variation Id: 17071
• ClinVar RCV Id: RCV000018600 ; RCV001200330
• dbSNP Id: rs200206736
• ExAC: 1:22970616 G / A
• gnomAD v2: 1-22970616-G-A
• gnomAD v3: 1-22644123-G-A
• gnomAD v4: 1-22644123-G-A
• MyVariant Identifiers: chr1:g.22970616G>A (hg19) ; chr1:g.22644123G>A (hg38)
• PubMed: PMID:7900940 ; PMID:8630118

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22644123G>A , CM000663.2:g.22644123G>A	GRCh38
NC_000001.10:g.22970616G>A , CM000663.1:g.22970616G>A	GRCh37
NC_000001.9:g.22843203G>A	NCBI36
NG_007565.1:g.5499G>A , LRG_24:g.5499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695749.1:c.-87+409G>A	ENSP00000512142.1:n.-87+409G>A
ENST00000695750.1:c.100G>A	ENSP00000512143.1:p.Gly34Arg
ENST00000695751.1:c.100G>A	ENSP00000512144.1:p.Gly34Arg
ENST00000695752.1:c.100G>A	ENSP00000512145.1:p.Gly34Arg
ENST00000695753.1:c.-87+237G>A	ENSP00000512146.1:n.-87+237G>A
ENST00000374640.9:c.100G>A MANE Select	ENSP00000363771.4:p.Gly34Arg
ENST00000374637.1:c.100G>A	ENSP00000363768.1:p.Gly34Arg
ENST00000374639.7:c.100G>A	ENSP00000363770.3:p.Gly34Arg
ENST00000374640.8:c.100G>A	ENSP00000363771.4:p.Gly34Arg
NM_001114101.1:c.100G>A , LRG_24t1:c.100G>A	NP_001107573.1:p.Gly34Arg
NM_172369.3:c.100G>A	NP_758957.2:p.Gly34Arg
NM_001114101.2:c.100G>A	NP_001107573.1:p.Gly34Arg
NM_001347619.1:c.100G>A	NP_001334548.1:p.Gly34Arg
NM_001347620.1:c.-87+409G>A	NP_001334549.1:n.-87+409G>A
NM_172369.4:c.100G>A	NP_758957.2:p.Gly34Arg
NM_172369.5:c.100G>A MANE Select	NP_758957.2:p.Gly34Arg
NM_001114101.3:c.100G>A	NP_001107573.1:p.Gly34Arg
NM_001347619.2:c.100G>A	NP_001334548.1:p.Gly34Arg
NM_001347620.2:c.-87+409G>A	NP_001334549.1:n.-87+409G>A