Canonical Allele Identifier: CA1141709659
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051728T= , CM000663.2:g.16051728T= GRCh38
NC_000001.10:g.16378223T= , CM000663.1:g.16378223T= GRCh37
NC_000001.9:g.16250810T= NCBI36
NG_013079.1:g.12977T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1316T= ENSP00000507062.1:p.Leu439=
ENST00000682793.1:c.1316T= ENSP00000506910.1:p.Leu439=
ENST00000682838.1:c.*1058T= ENSP00000507652.1:n.*1058T=
ENST00000683578.1:c.1316T= ENSP00000507430.1:p.Leu439=
ENST00000683606.1:n.931T=
ENST00000683661.1:n.2851T=
ENST00000684324.1:c.1316T= ENSP00000507937.1:p.Leu439=
ENST00000684545.1:c.1316T= ENSP00000506733.1:p.Leu439=
ENST00000684624.1:n.693T=
ENST00000684714.1:c.1316T= ENSP00000506861.1:p.Leu439=
ENST00000684731.1:n.777T=
ENST00000375679.9:c.1316T= MANE Select ENSP00000364831.5:p.Leu439=
ENST00000375667.7:c.809T= ENSP00000364819.3:p.Leu270=
ENST00000375679.8:c.1316T= ENSP00000364831.4:p.Leu439=
ENST00000619181.4:c.935T= ENSP00000483866.1:p.Leu312=
NM_000085.4:c.1316T= NP_000076.2:p.Leu439=
NM_001165945.2:c.809T= NP_001159417.2:p.Leu270=
XM_011540619.1:c.1157T= XP_011538921.1:p.Leu386=
XM_011540620.1:c.1316T= XP_011538922.1:p.Leu439=
XM_011540621.1:c.665T= XP_011538923.1:p.Leu222=
NM_000085.5:c.1316T= MANE Select NP_000076.2:p.Leu439=