Canonical Allele Identifier: CA416684323

Gene: C1QB

Linked Data

• MyVariant Identifiers: chr1:g.22987519G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661026G>C , CM000663.2:g.22661026G>C	GRCh38
NC_000001.10:g.22987519G>C , CM000663.1:g.22987519G>C	GRCh37
NC_000001.9:g.22860106G>C	NCBI36
NG_007283.1:g.12838G>C , LRG_23:g.12838G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695754.1:c.396G>C	ENSP00000512147.1:p.Leu132=
ENST00000695755.1:c.396G>C	ENSP00000512148.1:p.Leu132=
ENST00000695756.1:c.396G>C	ENSP00000512149.1:p.Leu132=
ENST00000695757.1:c.396G>C	ENSP00000512150.1:p.Leu132=
ENST00000695758.1:c.422G>C	ENSP00000512151.1:p.Cys141Ser
ENST00000695759.1:c.503G>C	ENSP00000512152.1:p.Cys168Ser
ENST00000695760.1:c.474G>C	ENSP00000512153.1:p.Leu158=
ENST00000695761.1:c.461G>C	ENSP00000512154.1:p.Cys154Ser
ENST00000695762.1:c.387G>C	ENSP00000512155.1:p.Leu129=
ENST00000695763.1:c.*565G>C	ENSP00000512156.1:n.*565G>C
ENST00000509305.6:c.396G>C MANE Select	ENSP00000423689.1:p.Leu132=
ENST00000314933.6:c.402G>C	ENSP00000313967.6:p.Leu134=
ENST00000432749.6:c.396G>C	ENSP00000404606.2:p.Leu132=
ENST00000509305.5:c.396G>C	ENSP00000423689.1:p.Leu132=
ENST00000510260.5:c.396G>C	ENSP00000426317.1:p.Leu132=
NM_000491.3:c.402G>C , LRG_23t1:c.402G>C	NP_000482.3:p.Leu134=
XM_011542059.1:c.402G>C	XP_011540361.1:p.Leu134=
NM_000491.4:c.402G>C	NP_000482.3:p.Leu134=
XM_011542059.2:c.402G>C	XP_011540361.1:p.Leu134=
NM_000491.5:c.402G>C	NP_000482.3:p.Leu134=
NM_001371184.1:c.402G>C	NP_001358113.1:p.Leu134=
NM_001371184.3:c.396G>C	NP_001358113.2:p.Leu132=
NM_001378156.1:c.396G>C MANE Select	NP_001365085.1:p.Leu132=