Canonical Allele Identifier: CA1155617776
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055450T= , CM000663.2:g.16055450T= GRCh38
NC_000001.10:g.16381945T= , CM000663.1:g.16381945T= GRCh37
NC_000001.9:g.16254532T= NCBI36
NG_013079.1:g.16699T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1772T= ENSP00000507062.1:p.Val591=
ENST00000682793.1:c.1772T= ENSP00000506910.1:p.Val591=
ENST00000682838.1:c.*1514T= ENSP00000507652.1:n.*1514T=
ENST00000683578.1:c.1772T= ENSP00000507430.1:p.Val591=
ENST00000683606.1:n.1378T=
ENST00000683661.1:n.3307T=
ENST00000684324.1:c.1772T= ENSP00000507937.1:p.Val591=
ENST00000684545.1:c.1772T= ENSP00000506733.1:p.Val591=
ENST00000684624.1:n.1149T=
ENST00000684714.1:c.1723T= ENSP00000506861.1:p.Trp575=
ENST00000684731.1:n.1099T=
ENST00000375679.9:c.1772T= MANE Select ENSP00000364831.5:p.Val591=
ENST00000375667.7:c.1265T= ENSP00000364819.3:p.Val422=
ENST00000375679.8:c.1772T= ENSP00000364831.4:p.Val591=
ENST00000431772.1:c.239T= ENSP00000389344.1:p.Val80=
ENST00000619181.4:c.1294-1737T= ENSP00000483866.1:n.1294-1737T=
NM_000085.4:c.1772T= NP_000076.2:p.Val591=
NM_001165945.2:c.1265T= NP_001159417.2:p.Val422=
XM_011540619.1:c.1613T= XP_011538921.1:p.Val538=
XM_011540621.1:c.1121T= XP_011538923.1:p.Val374=
NM_000085.5:c.1772T= MANE Select NP_000076.2:p.Val591=