Canonical Allele Identifier: CA338947244

Gene: C1QB

Linked Data

• MyVariant Identifiers: chr1:g.22987524G>T (hg19) ; chr1:g.22661031G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661031G>T , CM000663.2:g.22661031G>T	GRCh38
NC_000001.10:g.22987524G>T , CM000663.1:g.22987524G>T	GRCh37
NC_000001.9:g.22860111G>T	NCBI36
NG_007283.1:g.12843G>T , LRG_23:g.12843G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695754.1:c.401G>T	ENSP00000512147.1:p.Arg134Leu
ENST00000695755.1:c.401G>T	ENSP00000512148.1:p.Arg134Leu
ENST00000695756.1:c.401G>T	ENSP00000512149.1:p.Arg134Leu
ENST00000695757.1:c.401G>T	ENSP00000512150.1:p.Arg134Leu
ENST00000695758.1:c.427G>T	ENSP00000512151.1:p.Gly143Trp
ENST00000695759.1:c.508G>T	ENSP00000512152.1:p.Gly170Trp
ENST00000695760.1:c.479G>T	ENSP00000512153.1:p.Arg160Leu
ENST00000695761.1:c.466G>T	ENSP00000512154.1:p.Gly156Trp
ENST00000695762.1:c.392G>T	ENSP00000512155.1:p.Arg131Leu
ENST00000695763.1:c.*570G>T	ENSP00000512156.1:n.*570G>T
ENST00000509305.6:c.401G>T MANE Select	ENSP00000423689.1:p.Arg134Leu
ENST00000314933.6:c.407G>T	ENSP00000313967.6:p.Arg136Leu
ENST00000432749.6:c.401G>T	ENSP00000404606.2:p.Arg134Leu
ENST00000509305.5:c.401G>T	ENSP00000423689.1:p.Arg134Leu
ENST00000510260.5:c.401G>T	ENSP00000426317.1:p.Arg134Leu
NM_000491.3:c.407G>T , LRG_23t1:c.407G>T	NP_000482.3:p.Arg136Leu
XM_011542059.1:c.407G>T	XP_011540361.1:p.Arg136Leu
NM_000491.4:c.407G>T	NP_000482.3:p.Arg136Leu
XM_011542059.2:c.407G>T	XP_011540361.1:p.Arg136Leu
NM_000491.5:c.407G>T	NP_000482.3:p.Arg136Leu
NM_001371184.1:c.407G>T	NP_001358113.1:p.Arg136Leu
NM_001371184.3:c.401G>T	NP_001358113.2:p.Arg134Leu
NM_001378156.1:c.401G>T MANE Select	NP_001365085.1:p.Arg134Leu