Canonical Allele Identifier: CA1155617872
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055487G= , CM000663.2:g.16055487G= GRCh38
NC_000001.10:g.16381982G= , CM000663.1:g.16381982G= GRCh37
NC_000001.9:g.16254569G= NCBI36
NG_013079.1:g.16736G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1809G= ENSP00000507062.1:p.Leu603=
ENST00000682793.1:c.1809G= ENSP00000506910.1:p.Leu603=
ENST00000682838.1:c.*1551G= ENSP00000507652.1:n.*1551G=
ENST00000683578.1:c.1809G= ENSP00000507430.1:p.Leu603=
ENST00000683606.1:n.1415G=
ENST00000683661.1:n.3344G=
ENST00000684324.1:c.1809G= ENSP00000507937.1:p.Leu603=
ENST00000684545.1:c.1809G= ENSP00000506733.1:p.Leu603=
ENST00000684624.1:n.1186G=
ENST00000684714.1:c.*29G= ENSP00000506861.1:n.*29G=
ENST00000684731.1:n.1136G=
ENST00000375679.9:c.1809G= MANE Select ENSP00000364831.5:p.Leu603=
ENST00000375667.7:c.1302G= ENSP00000364819.3:p.Leu434=
ENST00000375679.8:c.1809G= ENSP00000364831.4:p.Leu603=
ENST00000431772.1:c.276G= ENSP00000389344.1:p.Leu92=
ENST00000619181.4:c.1294-1700G= ENSP00000483866.1:n.1294-1700G=
NM_000085.4:c.1809G= NP_000076.2:p.Leu603=
NM_001165945.2:c.1302G= NP_001159417.2:p.Leu434=
XM_011540619.1:c.1650G= XP_011538921.1:p.Leu550=
XM_011540621.1:c.1158G= XP_011538923.1:p.Leu386=
NM_000085.5:c.1809G= MANE Select NP_000076.2:p.Leu603=