Canonical Allele Identifier: CA338641019
Gene: CLCNKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051481T>G , CM000663.2:g.16051481T>G GRCh38
NC_000001.10:g.16377976T>G , CM000663.1:g.16377976T>G GRCh37
NC_000001.9:g.16250563T>G NCBI36
NG_013079.1:g.12730T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1231T>G ENSP00000507062.1:p.Trp411Gly
ENST00000682793.1:c.1231T>G ENSP00000506910.1:p.Trp411Gly
ENST00000682838.1:c.*973T>G ENSP00000507652.1:n.*973T>G
ENST00000683578.1:c.1231T>G ENSP00000507430.1:p.Trp411Gly
ENST00000683606.1:n.846T>G
ENST00000683661.1:n.2766T>G
ENST00000684324.1:c.1231T>G ENSP00000507937.1:p.Trp411Gly
ENST00000684545.1:c.1231T>G ENSP00000506733.1:p.Trp411Gly
ENST00000684624.1:n.608T>G
ENST00000684714.1:c.1231T>G ENSP00000506861.1:p.Trp411Gly
ENST00000684731.1:n.692T>G
ENST00000375679.9:c.1231T>G MANE Select ENSP00000364831.5:p.Trp411Gly
ENST00000375667.7:c.724T>G ENSP00000364819.3:p.Trp242Gly
ENST00000375679.8:c.1231T>G ENSP00000364831.4:p.Trp411Gly
ENST00000619181.4:c.850T>G ENSP00000483866.1:p.Trp284Gly
NM_000085.4:c.1231T>G NP_000076.2:p.Trp411Gly
NM_001165945.2:c.724T>G NP_001159417.2:p.Trp242Gly
XM_011540619.1:c.1072T>G XP_011538921.1:p.Trp358Gly
XM_011540620.1:c.1231T>G XP_011538922.1:p.Trp411Gly
XM_011540621.1:c.580T>G XP_011538923.1:p.Trp194Gly
NM_000085.5:c.1231T>G MANE Select NP_000076.2:p.Trp411Gly