Canonical Allele Identifier: CA338635363
Gene: CLCNKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16048549G>T , CM000663.2:g.16048549G>T GRCh38
NC_000001.10:g.16375044G>T , CM000663.1:g.16375044G>T GRCh37
NC_000001.9:g.16247631G>T NCBI36
NG_013079.1:g.9798G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682338.1:c.622G>T ENSP00000507062.1:p.Gly208Cys
ENST00000682793.1:c.622G>T ENSP00000506910.1:p.Gly208Cys
ENST00000682838.1:c.*280G>T ENSP00000507652.1:n.*280G>T
ENST00000683578.1:c.622G>T ENSP00000507430.1:p.Gly208Cys
ENST00000683661.1:n.2157G>T
ENST00000684324.1:c.622G>T ENSP00000507937.1:p.Gly208Cys
ENST00000684545.1:c.622G>T ENSP00000506733.1:p.Gly208Cys
ENST00000684714.1:c.622G>T ENSP00000506861.1:p.Gly208Cys
ENST00000684731.1:n.83G>T
ENST00000375679.9:c.622G>T MANE Select ENSP00000364831.5:p.Gly208Cys
ENST00000375679.8:c.622G>T ENSP00000364831.4:p.Gly208Cys
ENST00000619181.4:c.587+35G>T ENSP00000483866.1:n.587+35G>T
NM_000085.4:c.622G>T NP_000076.2:p.Gly208Cys
XM_011540619.1:c.463G>T XP_011538921.1:p.Gly155Cys
XM_011540620.1:c.622G>T XP_011538922.1:p.Gly208Cys
NM_000085.5:c.622G>T MANE Select NP_000076.2:p.Gly208Cys