Canonical Allele Identifier: CA1155658490
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051489G= , CM000663.2:g.16051489G= GRCh38
NC_000001.10:g.16377984G= , CM000663.1:g.16377984G= GRCh37
NC_000001.9:g.16250571G= NCBI36
NG_013079.1:g.12738G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1239G= ENSP00000507062.1:p.Leu413=
ENST00000682793.1:c.1239G= ENSP00000506910.1:p.Leu413=
ENST00000682838.1:c.*981G= ENSP00000507652.1:n.*981G=
ENST00000683578.1:c.1239G= ENSP00000507430.1:p.Leu413=
ENST00000683606.1:n.854G=
ENST00000683661.1:n.2774G=
ENST00000684324.1:c.1239G= ENSP00000507937.1:p.Leu413=
ENST00000684545.1:c.1239G= ENSP00000506733.1:p.Leu413=
ENST00000684624.1:n.616G=
ENST00000684714.1:c.1239G= ENSP00000506861.1:p.Leu413=
ENST00000684731.1:n.700G=
ENST00000375679.9:c.1239G= MANE Select ENSP00000364831.5:p.Leu413=
ENST00000375667.7:c.732G= ENSP00000364819.3:p.Leu244=
ENST00000375679.8:c.1239G= ENSP00000364831.4:p.Leu413=
ENST00000619181.4:c.858G= ENSP00000483866.1:p.Leu286=
NM_000085.4:c.1239G= NP_000076.2:p.Leu413=
NM_001165945.2:c.732G= NP_001159417.2:p.Leu244=
XM_011540619.1:c.1080G= XP_011538921.1:p.Leu360=
XM_011540620.1:c.1239G= XP_011538922.1:p.Leu413=
XM_011540621.1:c.588G= XP_011538923.1:p.Leu196=
NM_000085.5:c.1239G= MANE Select NP_000076.2:p.Leu413=