Canonical Allele Identifier: CA338644925
Gene: CLCNKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055509G>C , CM000663.2:g.16055509G>C GRCh38
NC_000001.10:g.16382004G>C , CM000663.1:g.16382004G>C GRCh37
NC_000001.9:g.16254591G>C NCBI36
NG_013079.1:g.16758G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1831G>C ENSP00000507062.1:p.Ala611Pro
ENST00000682793.1:c.1831G>C ENSP00000506910.1:p.Ala611Pro
ENST00000682838.1:c.*1573G>C ENSP00000507652.1:n.*1573G>C
ENST00000683578.1:c.1831G>C ENSP00000507430.1:p.Ala611Pro
ENST00000683606.1:n.1437G>C
ENST00000683661.1:n.3366G>C
ENST00000684324.1:c.1831G>C ENSP00000507937.1:p.Ala611Pro
ENST00000684545.1:c.1831G>C ENSP00000506733.1:p.Ala611Pro
ENST00000684624.1:n.1208G>C
ENST00000684714.1:c.*51G>C ENSP00000506861.1:n.*51G>C
ENST00000684731.1:n.1158G>C
ENST00000375679.9:c.1831G>C MANE Select ENSP00000364831.5:p.Ala611Pro
ENST00000375667.7:c.1324G>C ENSP00000364819.3:p.Ala442Pro
ENST00000375679.8:c.1831G>C ENSP00000364831.4:p.Ala611Pro
ENST00000431772.1:c.298G>C ENSP00000389344.1:p.Ala100Pro
ENST00000619181.4:c.1294-1678G>C ENSP00000483866.1:n.1294-1678G>C
NM_000085.4:c.1831G>C NP_000076.2:p.Ala611Pro
NM_001165945.2:c.1324G>C NP_001159417.2:p.Ala442Pro
XM_011540619.1:c.1672G>C XP_011538921.1:p.Ala558Pro
XM_011540621.1:c.1180G>C XP_011538923.1:p.Ala394Pro
NM_000085.5:c.1831G>C MANE Select NP_000076.2:p.Ala611Pro