Canonical Allele Identifier: CA338947212

Gene: C1QB

Linked Data

• dbSNP Id: rs1380712992
• gnomAD v4: 1-22661027-C-T
• MyVariant Identifiers: chr1:g.22987520C>T (hg19) ; chr1:g.22661027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661027C>T , CM000663.2:g.22661027C>T	GRCh38
NC_000001.10:g.22987520C>T , CM000663.1:g.22987520C>T	GRCh37
NC_000001.9:g.22860107C>T	NCBI36
NG_007283.1:g.12839C>T , LRG_23:g.12839C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695754.1:c.397C>T	ENSP00000512147.1:p.Arg133Cys
ENST00000695755.1:c.397C>T	ENSP00000512148.1:p.Arg133Cys
ENST00000695756.1:c.397C>T	ENSP00000512149.1:p.Arg133Cys
ENST00000695757.1:c.397C>T	ENSP00000512150.1:p.Arg133Cys
ENST00000695758.1:c.423C>T	ENSP00000512151.1:p.Cys141=
ENST00000695759.1:c.504C>T	ENSP00000512152.1:p.Cys168=
ENST00000695760.1:c.475C>T	ENSP00000512153.1:p.Arg159Cys
ENST00000695761.1:c.462C>T	ENSP00000512154.1:p.Cys154=
ENST00000695762.1:c.388C>T	ENSP00000512155.1:p.Arg130Cys
ENST00000695763.1:c.*566C>T	ENSP00000512156.1:n.*566C>T
ENST00000509305.6:c.397C>T MANE Select	ENSP00000423689.1:p.Arg133Cys
ENST00000314933.6:c.403C>T	ENSP00000313967.6:p.Arg135Cys
ENST00000432749.6:c.397C>T	ENSP00000404606.2:p.Arg133Cys
ENST00000509305.5:c.397C>T	ENSP00000423689.1:p.Arg133Cys
ENST00000510260.5:c.397C>T	ENSP00000426317.1:p.Arg133Cys
NM_000491.3:c.403C>T , LRG_23t1:c.403C>T	NP_000482.3:p.Arg135Cys
XM_011542059.1:c.403C>T	XP_011540361.1:p.Arg135Cys
NM_000491.4:c.403C>T	NP_000482.3:p.Arg135Cys
XM_011542059.2:c.403C>T	XP_011540361.1:p.Arg135Cys
NM_000491.5:c.403C>T	NP_000482.3:p.Arg135Cys
NM_001371184.1:c.403C>T	NP_001358113.1:p.Arg135Cys
NM_001371184.3:c.397C>T	NP_001358113.2:p.Arg133Cys
NM_001378156.1:c.397C>T MANE Select	NP_001365085.1:p.Arg133Cys