Canonical Allele Identifier: CA2643570600
Gene: CLCNKB HGNC NCBI

Linked Data

gnomAD v4: 1-16052137-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16052137C>T , CM000663.2:g.16052137C>T GRCh38
NC_000001.10:g.16378632C>T , CM000663.1:g.16378632C>T GRCh37
NC_000001.9:g.16251219C>T NCBI36
NG_013079.1:g.13386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1409-61C>T ENSP00000507062.1:n.1409-61C>T
ENST00000682793.1:c.1409-61C>T ENSP00000506910.1:n.1409-61C>T
ENST00000682838.1:c.*1151-61C>T ENSP00000507652.1:n.*1151-61C>T
ENST00000683578.1:c.1409-61C>T ENSP00000507430.1:n.1409-61C>T
ENST00000683606.1:n.1024-70C>T
ENST00000683661.1:n.2944-61C>T
ENST00000684324.1:c.1409-61C>T ENSP00000507937.1:n.1409-61C>T
ENST00000684545.1:c.1409-61C>T ENSP00000506733.1:n.1409-61C>T
ENST00000684624.1:n.786-61C>T
ENST00000684714.1:c.1409-61C>T ENSP00000506861.1:n.1409-61C>T
ENST00000684731.1:n.870-61C>T
ENST00000375679.9:c.1409-61C>T MANE Select ENSP00000364831.5:n.1409-61C>T
ENST00000375667.7:c.902-61C>T ENSP00000364819.3:n.902-61C>T
ENST00000375679.8:c.1409-61C>T ENSP00000364831.4:n.1409-61C>T
ENST00000619181.4:c.1028-61C>T ENSP00000483866.1:n.1028-61C>T
NM_000085.4:c.1409-61C>T NP_000076.2:n.1409-61C>T
NM_001165945.2:c.902-61C>T NP_001159417.2:n.902-61C>T
XM_011540619.1:c.1250-61C>T XP_011538921.1:n.1250-61C>T
XM_011540620.1:c.1409-61C>T XP_011538922.1:n.1409-61C>T
XM_011540621.1:c.758-61C>T XP_011538923.1:n.758-61C>T
NM_000085.5:c.1409-61C>T MANE Select NP_000076.2:n.1409-61C>T