Canonical Allele Identifier: CA338641323
Gene: CLCNKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051722G>T , CM000663.2:g.16051722G>T GRCh38
NC_000001.10:g.16378217G>T , CM000663.1:g.16378217G>T GRCh37
NC_000001.9:g.16250804G>T NCBI36
NG_013079.1:g.12971G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682338.1:c.1310G>T ENSP00000507062.1:p.Gly437Val
ENST00000682793.1:c.1310G>T ENSP00000506910.1:p.Gly437Val
ENST00000682838.1:c.*1052G>T ENSP00000507652.1:n.*1052G>T
ENST00000683578.1:c.1310G>T ENSP00000507430.1:p.Gly437Val
ENST00000683606.1:n.925G>T
ENST00000683661.1:n.2845G>T
ENST00000684324.1:c.1310G>T ENSP00000507937.1:p.Gly437Val
ENST00000684545.1:c.1310G>T ENSP00000506733.1:p.Gly437Val
ENST00000684624.1:n.687G>T
ENST00000684714.1:c.1310G>T ENSP00000506861.1:p.Gly437Val
ENST00000684731.1:n.771G>T
ENST00000375679.9:c.1310G>T MANE Select ENSP00000364831.5:p.Gly437Val
ENST00000375667.7:c.803G>T ENSP00000364819.3:p.Gly268Val
ENST00000375679.8:c.1310G>T ENSP00000364831.4:p.Gly437Val
ENST00000619181.4:c.929G>T ENSP00000483866.1:p.Gly310Val
NM_000085.4:c.1310G>T NP_000076.2:p.Gly437Val
NM_001165945.2:c.803G>T NP_001159417.2:p.Gly268Val
XM_011540619.1:c.1151G>T XP_011538921.1:p.Gly384Val
XM_011540620.1:c.1310G>T XP_011538922.1:p.Gly437Val
XM_011540621.1:c.659G>T XP_011538923.1:p.Gly220Val
NM_000085.5:c.1310G>T MANE Select NP_000076.2:p.Gly437Val