Canonical Allele Identifier: CA338947204

Gene: C1QB

Linked Data

• MyVariant Identifiers: chr1:g.22987518T>G (hg19) ; chr1:g.22661025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661025T>G , CM000663.2:g.22661025T>G	GRCh38
NC_000001.10:g.22987518T>G , CM000663.1:g.22987518T>G	GRCh37
NC_000001.9:g.22860105T>G	NCBI36
NG_007283.1:g.12837T>G , LRG_23:g.12837T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695754.1:c.395T>G	ENSP00000512147.1:p.Leu132Arg
ENST00000695755.1:c.395T>G	ENSP00000512148.1:p.Leu132Arg
ENST00000695756.1:c.395T>G	ENSP00000512149.1:p.Leu132Arg
ENST00000695757.1:c.395T>G	ENSP00000512150.1:p.Leu132Arg
ENST00000695758.1:c.421T>G	ENSP00000512151.1:p.Cys141Gly
ENST00000695759.1:c.502T>G	ENSP00000512152.1:p.Cys168Gly
ENST00000695760.1:c.473T>G	ENSP00000512153.1:p.Leu158Arg
ENST00000695761.1:c.460T>G	ENSP00000512154.1:p.Cys154Gly
ENST00000695762.1:c.386T>G	ENSP00000512155.1:p.Leu129Arg
ENST00000695763.1:c.*564T>G	ENSP00000512156.1:n.*564T>G
ENST00000509305.6:c.395T>G MANE Select	ENSP00000423689.1:p.Leu132Arg
ENST00000314933.6:c.401T>G	ENSP00000313967.6:p.Leu134Arg
ENST00000432749.6:c.395T>G	ENSP00000404606.2:p.Leu132Arg
ENST00000509305.5:c.395T>G	ENSP00000423689.1:p.Leu132Arg
ENST00000510260.5:c.395T>G	ENSP00000426317.1:p.Leu132Arg
NM_000491.3:c.401T>G , LRG_23t1:c.401T>G	NP_000482.3:p.Leu134Arg
XM_011542059.1:c.401T>G	XP_011540361.1:p.Leu134Arg
NM_000491.4:c.401T>G	NP_000482.3:p.Leu134Arg
XM_011542059.2:c.401T>G	XP_011540361.1:p.Leu134Arg
NM_000491.5:c.401T>G	NP_000482.3:p.Leu134Arg
NM_001371184.1:c.401T>G	NP_001358113.1:p.Leu134Arg
NM_001371184.3:c.395T>G	NP_001358113.2:p.Leu132Arg
NM_001378156.1:c.395T>G MANE Select	NP_001365085.1:p.Leu132Arg