Canonical Allele Identifier: CA338947259

Gene: C1QB

Linked Data

• MyVariant Identifiers: chr1:g.22987527A>T (hg19) ; chr1:g.22661034A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661034A>T , CM000663.2:g.22661034A>T	GRCh38
NC_000001.10:g.22987527A>T , CM000663.1:g.22987527A>T	GRCh37
NC_000001.9:g.22860114A>T	NCBI36
NG_007283.1:g.12846A>T , LRG_23:g.12846A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695754.1:c.404A>T	ENSP00000512147.1:p.Asp135Val
ENST00000695755.1:c.404A>T	ENSP00000512148.1:p.Asp135Val
ENST00000695756.1:c.404A>T	ENSP00000512149.1:p.Asp135Val
ENST00000695757.1:c.404A>T	ENSP00000512150.1:p.Asp135Val
ENST00000695758.1:c.430A>T	ENSP00000512151.1:p.Thr144Ser
ENST00000695759.1:c.511A>T	ENSP00000512152.1:p.Thr171Ser
ENST00000695760.1:c.482A>T	ENSP00000512153.1:p.Asp161Val
ENST00000695761.1:c.469A>T	ENSP00000512154.1:p.Thr157Ser
ENST00000695762.1:c.395A>T	ENSP00000512155.1:p.Asp132Val
ENST00000695763.1:c.*573A>T	ENSP00000512156.1:n.*573A>T
ENST00000509305.6:c.404A>T MANE Select	ENSP00000423689.1:p.Asp135Val
ENST00000314933.6:c.410A>T	ENSP00000313967.6:p.Asp137Val
ENST00000432749.6:c.404A>T	ENSP00000404606.2:p.Asp135Val
ENST00000509305.5:c.404A>T	ENSP00000423689.1:p.Asp135Val
ENST00000510260.5:c.404A>T	ENSP00000426317.1:p.Asp135Val
NM_000491.3:c.410A>T , LRG_23t1:c.410A>T	NP_000482.3:p.Asp137Val
XM_011542059.1:c.410A>T	XP_011540361.1:p.Asp137Val
NM_000491.4:c.410A>T	NP_000482.3:p.Asp137Val
XM_011542059.2:c.410A>T	XP_011540361.1:p.Asp137Val
NM_000491.5:c.410A>T	NP_000482.3:p.Asp137Val
NM_001371184.1:c.410A>T	NP_001358113.1:p.Asp137Val
NM_001371184.3:c.404A>T	NP_001358113.2:p.Asp135Val
NM_001378156.1:c.404A>T MANE Select	NP_001365085.1:p.Asp135Val