Canonical Allele Identifier: CA1155658428
Gene: CLCNKB HGNC NCBI

Linked Data

dbSNP Id: rs1570339040
gnomAD v4: 1-16051359-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051359G>T , CM000663.2:g.16051359G>T GRCh38
NC_000001.10:g.16377854G>T , CM000663.1:g.16377854G>T GRCh37
NC_000001.9:g.16250441G>T NCBI36
NG_013079.1:g.12608G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1228-119G>T ENSP00000507062.1:n.1228-119G>T
ENST00000682793.1:c.1228-119G>T ENSP00000506910.1:n.1228-119G>T
ENST00000682838.1:c.*970-119G>T ENSP00000507652.1:n.*970-119G>T
ENST00000683578.1:c.1228-119G>T ENSP00000507430.1:n.1228-119G>T
ENST00000683606.1:n.843-119G>T
ENST00000683661.1:n.2763-119G>T
ENST00000684324.1:c.1228-119G>T ENSP00000507937.1:n.1228-119G>T
ENST00000684545.1:c.1228-119G>T ENSP00000506733.1:n.1228-119G>T
ENST00000684624.1:n.605-119G>T
ENST00000684714.1:c.1228-119G>T ENSP00000506861.1:n.1228-119G>T
ENST00000684731.1:n.689-119G>T
ENST00000375679.9:c.1228-119G>T MANE Select ENSP00000364831.5:n.1228-119G>T
ENST00000375667.7:c.721-119G>T ENSP00000364819.3:n.721-119G>T
ENST00000375679.8:c.1228-119G>T ENSP00000364831.4:n.1228-119G>T
ENST00000619181.4:c.847-119G>T ENSP00000483866.1:n.847-119G>T
NM_000085.4:c.1228-119G>T NP_000076.2:n.1228-119G>T
NM_001165945.2:c.721-119G>T NP_001159417.2:n.721-119G>T
XM_011540619.1:c.1069-119G>T XP_011538921.1:n.1069-119G>T
XM_011540620.1:c.1228-119G>T XP_011538922.1:n.1228-119G>T
XM_011540621.1:c.577-119G>T XP_011538923.1:n.577-119G>T
NM_000085.5:c.1228-119G>T MANE Select NP_000076.2:n.1228-119G>T