Canonical Allele Identifier: CA16621559
Gene: C1QB HGNC NCBI

Linked Data

ClinVar Variation Id: 424891
ClinVar RCV Id: RCV000488091
dbSNP Id: rs1064797108
MyVariant Identifiers: chr1:g.22987517del (hg19) chr1:g.22661024del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.22661024del , CM000663.2:g.22661024del GRCh38
NC_000001.10:g.22987517del , CM000663.1:g.22987517del GRCh37
NC_000001.9:g.22860104del NCBI36
NG_007283.1:g.12836del , LRG_23:g.12836del

Transcript Alleles

HGVS Amino-acid change
ENST00000695754.1:c.394del ENSP00000512147.1:p.Leu132CysfsTer12
ENST00000695755.1:c.394del ENSP00000512148.1:p.Leu132CysfsTer12
ENST00000695756.1:c.394del ENSP00000512149.1:p.Leu132CysfsTer12
ENST00000695757.1:c.394del ENSP00000512150.1:p.Leu132CysfsTer12
ENST00000695758.1:c.420del ENSP00000512151.1:p.Cys141AlafsTer20
ENST00000695759.1:c.501del ENSP00000512152.1:p.Cys168AlafsTer20
ENST00000695760.1:c.472del ENSP00000512153.1:p.Leu158CysfsTer12
ENST00000695761.1:c.459del ENSP00000512154.1:p.Cys154AlafsTer20
ENST00000695762.1:c.385del ENSP00000512155.1:p.Leu129CysfsTer12
ENST00000695763.1:c.*563del ENSP00000512156.1:n.*563del
ENST00000509305.6:c.394del MANE Select ENSP00000423689.1:p.Leu132CysfsTer12
ENST00000314933.6:c.400del ENSP00000313967.6:p.Leu134CysfsTer12
ENST00000432749.6:c.394del ENSP00000404606.2:p.Leu132CysfsTer12
ENST00000509305.5:c.394del ENSP00000423689.1:p.Leu132CysfsTer12
ENST00000510260.5:c.394del ENSP00000426317.1:p.Leu132CysfsTer12
NM_000491.3:c.400del , LRG_23t1:c.400del NP_000482.3:p.Leu134CysfsTer12
XM_011542059.1:c.400del XP_011540361.1:p.Leu134CysfsTer12
NM_000491.4:c.400del NP_000482.3:p.Leu134CysfsTer12
XM_011542059.2:c.400del XP_011540361.1:p.Leu134CysfsTer12
NM_000491.5:c.400del NP_000482.3:p.Leu134CysfsTer12
NM_001371184.1:c.400del NP_001358113.1:p.Leu134CysfsTer12
NM_001371184.3:c.394del NP_001358113.2:p.Leu132CysfsTer12
NM_001378156.1:c.394del MANE Select NP_001365085.1:p.Leu132CysfsTer12
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