Canonical Allele Identifier: CA338947290

Gene: C1QB

Linked Data

• MyVariant Identifiers: chr1:g.22987530A>T (hg19) ; chr1:g.22661037A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661037A>T , CM000663.2:g.22661037A>T	GRCh38
NC_000001.10:g.22987530A>T , CM000663.1:g.22987530A>T	GRCh37
NC_000001.9:g.22860117A>T	NCBI36
NG_007283.1:g.12849A>T , LRG_23:g.12849A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695754.1:c.407A>T	ENSP00000512147.1:p.Gln136Leu
ENST00000695755.1:c.407A>T	ENSP00000512148.1:p.Gln136Leu
ENST00000695756.1:c.407A>T	ENSP00000512149.1:p.Gln136Leu
ENST00000695757.1:c.407A>T	ENSP00000512150.1:p.Gln136Leu
ENST00000695758.1:c.433A>T	ENSP00000512151.1:p.Arg145Ter
ENST00000695759.1:c.514A>T	ENSP00000512152.1:p.Arg172Ter
ENST00000695760.1:c.485A>T	ENSP00000512153.1:p.Gln162Leu
ENST00000695761.1:c.472A>T	ENSP00000512154.1:p.Arg158Ter
ENST00000695762.1:c.398A>T	ENSP00000512155.1:p.Gln133Leu
ENST00000695763.1:c.*576A>T	ENSP00000512156.1:n.*576A>T
ENST00000509305.6:c.407A>T MANE Select	ENSP00000423689.1:p.Gln136Leu
ENST00000314933.6:c.413A>T	ENSP00000313967.6:p.Gln138Leu
ENST00000432749.6:c.407A>T	ENSP00000404606.2:p.Gln136Leu
ENST00000509305.5:c.407A>T	ENSP00000423689.1:p.Gln136Leu
ENST00000510260.5:c.407A>T	ENSP00000426317.1:p.Gln136Leu
NM_000491.3:c.413A>T , LRG_23t1:c.413A>T	NP_000482.3:p.Gln138Leu
XM_011542059.1:c.413A>T	XP_011540361.1:p.Gln138Leu
NM_000491.4:c.413A>T	NP_000482.3:p.Gln138Leu
XM_011542059.2:c.413A>T	XP_011540361.1:p.Gln138Leu
NM_000491.5:c.413A>T	NP_000482.3:p.Gln138Leu
NM_001371184.1:c.413A>T	NP_001358113.1:p.Gln138Leu
NM_001371184.3:c.407A>T	NP_001358113.2:p.Gln136Leu
NM_001378156.1:c.407A>T MANE Select	NP_001365085.1:p.Gln136Leu