Canonical Allele Identifier: CA2574231066
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055414G>T , CM000663.2:g.16055414G>T GRCh38
NC_000001.10:g.16381909G>T , CM000663.1:g.16381909G>T GRCh37
NC_000001.9:g.16254496G>T NCBI36
NG_013079.1:g.16663G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1757-21G>T ENSP00000507062.1:n.1757-21G>T
ENST00000682793.1:c.1757-21G>T ENSP00000506910.1:n.1757-21G>T
ENST00000682838.1:c.*1499-21G>T ENSP00000507652.1:n.*1499-21G>T
ENST00000683578.1:c.1757-21G>T ENSP00000507430.1:n.1757-21G>T
ENST00000683606.1:n.1363-21G>T
ENST00000683661.1:n.3292-21G>T
ENST00000684324.1:c.1757-21G>T ENSP00000507937.1:n.1757-21G>T
ENST00000684545.1:c.1757-21G>T ENSP00000506733.1:n.1757-21G>T
ENST00000684624.1:n.1134-21G>T
ENST00000684714.1:c.1708-21G>T ENSP00000506861.1:n.1708-21G>T
ENST00000684731.1:n.1084-21G>T
ENST00000375679.9:c.1757-21G>T MANE Select ENSP00000364831.5:n.1757-21G>T
ENST00000375667.7:c.1250-21G>T ENSP00000364819.3:n.1250-21G>T
ENST00000375679.8:c.1757-21G>T ENSP00000364831.4:n.1757-21G>T
ENST00000431772.1:c.224-21G>T ENSP00000389344.1:n.224-21G>T
ENST00000619181.4:c.1293+1724G>T ENSP00000483866.1:n.1293+1724G>T
NM_000085.4:c.1757-21G>T NP_000076.2:n.1757-21G>T
NM_001165945.2:c.1250-21G>T NP_001159417.2:n.1250-21G>T
XM_011540619.1:c.1598-21G>T XP_011538921.1:n.1598-21G>T
XM_011540621.1:c.1106-21G>T XP_011538923.1:n.1106-21G>T
NM_000085.5:c.1757-21G>T MANE Select NP_000076.2:n.1757-21G>T