Canonical Allele Identifier: CA678155

Gene: C1QB

Linked Data

• ClinVar Variation Id: 2337023
• ClinVar RCV Id: RCV002931162
• dbSNP Id: rs753074108
• ExAC: 1:22987521 G / A
• gnomAD v2: 1-22987521-G-A
• gnomAD v3: 1-22661028-G-A
• gnomAD v4: 1-22661028-G-A
• MyVariant Identifiers: chr1:g.22987521G>A (hg19) ; chr1:g.22661028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661028G>A , CM000663.2:g.22661028G>A	GRCh38
NC_000001.10:g.22987521G>A , CM000663.1:g.22987521G>A	GRCh37
NC_000001.9:g.22860108G>A	NCBI36
NG_007283.1:g.12840G>A , LRG_23:g.12840G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695754.1:c.398G>A	ENSP00000512147.1:p.Arg133His
ENST00000695755.1:c.398G>A	ENSP00000512148.1:p.Arg133His
ENST00000695756.1:c.398G>A	ENSP00000512149.1:p.Arg133His
ENST00000695757.1:c.398G>A	ENSP00000512150.1:p.Arg133His
ENST00000695758.1:c.424G>A	ENSP00000512151.1:p.Ala142Thr
ENST00000695759.1:c.505G>A	ENSP00000512152.1:p.Ala169Thr
ENST00000695760.1:c.476G>A	ENSP00000512153.1:p.Arg159His
ENST00000695761.1:c.463G>A	ENSP00000512154.1:p.Ala155Thr
ENST00000695762.1:c.389G>A	ENSP00000512155.1:p.Arg130His
ENST00000695763.1:c.*567G>A	ENSP00000512156.1:n.*567G>A
ENST00000509305.6:c.398G>A MANE Select	ENSP00000423689.1:p.Arg133His
ENST00000314933.6:c.404G>A	ENSP00000313967.6:p.Arg135His
ENST00000432749.6:c.398G>A	ENSP00000404606.2:p.Arg133His
ENST00000509305.5:c.398G>A	ENSP00000423689.1:p.Arg133His
ENST00000510260.5:c.398G>A	ENSP00000426317.1:p.Arg133His
NM_000491.3:c.404G>A , LRG_23t1:c.404G>A	NP_000482.3:p.Arg135His
XM_011542059.1:c.404G>A	XP_011540361.1:p.Arg135His
NM_000491.4:c.404G>A	NP_000482.3:p.Arg135His
XM_011542059.2:c.404G>A	XP_011540361.1:p.Arg135His
NM_000491.5:c.404G>A	NP_000482.3:p.Arg135His
NM_001371184.1:c.404G>A	NP_001358113.1:p.Arg135His
NM_001371184.3:c.398G>A	NP_001358113.2:p.Arg133His
NM_001378156.1:c.398G>A MANE Select	NP_001365085.1:p.Arg133His