Canonical Allele Identifier: CA338635335
Gene: CLCNKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16048544C>T , CM000663.2:g.16048544C>T GRCh38
NC_000001.10:g.16375039C>T , CM000663.1:g.16375039C>T GRCh37
NC_000001.9:g.16247626C>T NCBI36
NG_013079.1:g.9793C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682338.1:c.617C>T ENSP00000507062.1:p.Ala206Val
ENST00000682793.1:c.617C>T ENSP00000506910.1:p.Ala206Val
ENST00000682838.1:c.*275C>T ENSP00000507652.1:n.*275C>T
ENST00000683578.1:c.617C>T ENSP00000507430.1:p.Ala206Val
ENST00000683661.1:n.2152C>T
ENST00000684324.1:c.617C>T ENSP00000507937.1:p.Ala206Val
ENST00000684545.1:c.617C>T ENSP00000506733.1:p.Ala206Val
ENST00000684714.1:c.617C>T ENSP00000506861.1:p.Ala206Val
ENST00000684731.1:n.78C>T
ENST00000375679.9:c.617C>T MANE Select ENSP00000364831.5:p.Ala206Val
ENST00000375679.8:c.617C>T ENSP00000364831.4:p.Ala206Val
ENST00000619181.4:c.587+30C>T ENSP00000483866.1:n.587+30C>T
NM_000085.4:c.617C>T NP_000076.2:p.Ala206Val
XM_011540619.1:c.458C>T XP_011538921.1:p.Ala153Val
XM_011540620.1:c.617C>T XP_011538922.1:p.Ala206Val
NM_000085.5:c.617C>T MANE Select NP_000076.2:p.Ala206Val