Canonical Allele Identifier: CA1155658350
Gene: CLCNKB HGNC NCBI

Linked Data

dbSNP Id: rs2023279186
gnomAD v4: 1-16051169-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051169C>G , CM000663.2:g.16051169C>G GRCh38
NC_000001.10:g.16377664C>G , CM000663.1:g.16377664C>G GRCh37
NC_000001.9:g.16250251C>G NCBI36
NG_013079.1:g.12418C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1227+121C>G ENSP00000507062.1:n.1227+121C>G
ENST00000682793.1:c.1227+121C>G ENSP00000506910.1:n.1227+121C>G
ENST00000682838.1:c.*969+121C>G ENSP00000507652.1:n.*969+121C>G
ENST00000683578.1:c.1227+121C>G ENSP00000507430.1:n.1227+121C>G
ENST00000683606.1:n.842+121C>G
ENST00000683661.1:n.2762+121C>G
ENST00000684324.1:c.1227+121C>G ENSP00000507937.1:n.1227+121C>G
ENST00000684545.1:c.1227+121C>G ENSP00000506733.1:n.1227+121C>G
ENST00000684624.1:n.604+121C>G
ENST00000684714.1:c.1227+121C>G ENSP00000506861.1:n.1227+121C>G
ENST00000684731.1:n.688+121C>G
ENST00000375679.9:c.1227+121C>G MANE Select ENSP00000364831.5:n.1227+121C>G
ENST00000375667.7:c.720+121C>G ENSP00000364819.3:n.720+121C>G
ENST00000375679.8:c.1227+121C>G ENSP00000364831.4:n.1227+121C>G
ENST00000619181.4:c.846+121C>G ENSP00000483866.1:n.846+121C>G
NM_000085.4:c.1227+121C>G NP_000076.2:n.1227+121C>G
NM_001165945.2:c.720+121C>G NP_001159417.2:n.720+121C>G
XM_011540619.1:c.1068+121C>G XP_011538921.1:n.1068+121C>G
XM_011540620.1:c.1227+121C>G XP_011538922.1:n.1227+121C>G
XM_011540621.1:c.576+121C>G XP_011538923.1:n.576+121C>G
NM_000085.5:c.1227+121C>G MANE Select NP_000076.2:n.1227+121C>G