Canonical Allele Identifier: CA1155615766
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16053759G= , CM000663.2:g.16053759G= GRCh38
NC_000001.10:g.16380254G= , CM000663.1:g.16380254G= GRCh37
NC_000001.9:g.16252841G= NCBI36
NG_013079.1:g.15008G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1743G= ENSP00000507062.1:p.Leu581=
ENST00000682793.1:c.1743G= ENSP00000506910.1:p.Leu581=
ENST00000682838.1:c.*1485G= ENSP00000507652.1:n.*1485G=
ENST00000683578.1:c.1743G= ENSP00000507430.1:p.Leu581=
ENST00000683606.1:n.1349G=
ENST00000683661.1:n.3278G=
ENST00000684324.1:c.1743G= ENSP00000507937.1:p.Leu581=
ENST00000684545.1:c.1743G= ENSP00000506733.1:p.Leu581=
ENST00000684624.1:n.1120G=
ENST00000684714.1:c.1707+36G= ENSP00000506861.1:n.1707+36G=
ENST00000684731.1:n.1083+1348G=
ENST00000375679.9:c.1743G= MANE Select ENSP00000364831.5:p.Leu581=
ENST00000375667.7:c.1236G= ENSP00000364819.3:p.Leu412=
ENST00000375679.8:c.1743G= ENSP00000364831.4:p.Leu581=
ENST00000431772.1:c.210G= ENSP00000389344.1:p.Leu70=
ENST00000619181.4:c.1293+69G= ENSP00000483866.1:n.1293+69G=
NM_000085.4:c.1743G= NP_000076.2:p.Leu581=
NM_001165945.2:c.1236G= NP_001159417.2:p.Leu412=
XM_011540619.1:c.1584G= XP_011538921.1:p.Leu528=
XM_011540621.1:c.1092G= XP_011538923.1:p.Leu364=
NM_000085.5:c.1743G= MANE Select NP_000076.2:p.Leu581=