Canonical Allele Identifier: CA338643948

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16380253T>C (hg19) ; chr1:g.16053758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16053758T>C , CM000663.2:g.16053758T>C	GRCh38
NC_000001.10:g.16380253T>C , CM000663.1:g.16380253T>C	GRCh37
NC_000001.9:g.16252840T>C	NCBI36
NG_013079.1:g.15007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1742T>C	ENSP00000507062.1:p.Leu581Pro
ENST00000682793.1:c.1742T>C	ENSP00000506910.1:p.Leu581Pro
ENST00000682838.1:c.*1484T>C	ENSP00000507652.1:n.*1484T>C
ENST00000683578.1:c.1742T>C	ENSP00000507430.1:p.Leu581Pro
ENST00000683606.1:n.1348T>C
ENST00000683661.1:n.3277T>C
ENST00000684324.1:c.1742T>C	ENSP00000507937.1:p.Leu581Pro
ENST00000684545.1:c.1742T>C	ENSP00000506733.1:p.Leu581Pro
ENST00000684624.1:n.1119T>C
ENST00000684714.1:c.1707+35T>C	ENSP00000506861.1:n.1707+35T>C
ENST00000684731.1:n.1083+1347T>C
ENST00000375679.9:c.1742T>C MANE Select	ENSP00000364831.5:p.Leu581Pro
ENST00000375667.7:c.1235T>C	ENSP00000364819.3:p.Leu412Pro
ENST00000375679.8:c.1742T>C	ENSP00000364831.4:p.Leu581Pro
ENST00000431772.1:c.209T>C	ENSP00000389344.1:p.Leu70Pro
ENST00000619181.4:c.1293+68T>C	ENSP00000483866.1:n.1293+68T>C
NM_000085.4:c.1742T>C	NP_000076.2:p.Leu581Pro
NM_001165945.2:c.1235T>C	NP_001159417.2:p.Leu412Pro
XM_011540619.1:c.1583T>C	XP_011538921.1:p.Leu528Pro
XM_011540621.1:c.1091T>C	XP_011538923.1:p.Leu364Pro
NM_000085.5:c.1742T>C MANE Select	NP_000076.2:p.Leu581Pro