Canonical Allele Identifier: CA338644666
Gene: CLCNKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055452G>C , CM000663.2:g.16055452G>C GRCh38
NC_000001.10:g.16381947G>C , CM000663.1:g.16381947G>C GRCh37
NC_000001.9:g.16254534G>C NCBI36
NG_013079.1:g.16701G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1774G>C ENSP00000507062.1:p.Gly592Arg
ENST00000682793.1:c.1774G>C ENSP00000506910.1:p.Gly592Arg
ENST00000682838.1:c.*1516G>C ENSP00000507652.1:n.*1516G>C
ENST00000683578.1:c.1774G>C ENSP00000507430.1:p.Gly592Arg
ENST00000683606.1:n.1380G>C
ENST00000683661.1:n.3309G>C
ENST00000684324.1:c.1774G>C ENSP00000507937.1:p.Gly592Arg
ENST00000684545.1:c.1774G>C ENSP00000506733.1:p.Gly592Arg
ENST00000684624.1:n.1151G>C
ENST00000684714.1:c.1725G>C ENSP00000506861.1:p.Trp575Cys
ENST00000684731.1:n.1101G>C
ENST00000375679.9:c.1774G>C MANE Select ENSP00000364831.5:p.Gly592Arg
ENST00000375667.7:c.1267G>C ENSP00000364819.3:p.Gly423Arg
ENST00000375679.8:c.1774G>C ENSP00000364831.4:p.Gly592Arg
ENST00000431772.1:c.241G>C ENSP00000389344.1:p.Gly81Arg
ENST00000619181.4:c.1294-1735G>C ENSP00000483866.1:n.1294-1735G>C
NM_000085.4:c.1774G>C NP_000076.2:p.Gly592Arg
NM_001165945.2:c.1267G>C NP_001159417.2:p.Gly423Arg
XM_011540619.1:c.1615G>C XP_011538921.1:p.Gly539Arg
XM_011540621.1:c.1123G>C XP_011538923.1:p.Gly375Arg
NM_000085.5:c.1774G>C MANE Select NP_000076.2:p.Gly592Arg