Canonical Allele Identifier: CA1141580606
Community Standard Title: NM_000085.5(CLCNKB):c.1046C= (p.Ala349=)
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16050593C= , CM000663.2:g.16050593C= GRCh38
NC_000001.10:g.16377088C= , CM000663.1:g.16377088C= GRCh37
NC_000001.9:g.16249675C= NCBI36
NG_013079.1:g.11842C=

Transcript Alleles

HGVS Amino-acid Change
NM_000085.5:c.1046C= MANE Select NP_000076.2:p.Ala349=
ENST00000375679.9:c.1046C= MANE Select ENSP00000364831.5:p.Ala349=
NM_000085.4:c.1046C= NP_000076.2:p.Ala349=
NM_001165945.2:c.539C= NP_001159417.2:p.Ala180=
ENST00000375667.7:c.539C= ENSP00000364819.3:p.Ala180=
ENST00000375679.8:c.1046C= ENSP00000364831.4:p.Ala349=
ENST00000619181.4:c.665C= ENSP00000483866.1:p.Ala222=
ENST00000682338.1:c.1046C= ENSP00000507062.1:p.Ala349=
ENST00000682793.1:c.1046C= ENSP00000506910.1:p.Ala349=
ENST00000682838.1:c.*788C= ENSP00000507652.1:n.*788C=
ENST00000683578.1:c.1046C= ENSP00000507430.1:p.Ala349=
ENST00000683606.1:n.661C=
ENST00000683661.1:n.2581C=
ENST00000684324.1:c.1046C= ENSP00000507937.1:p.Ala349=
ENST00000684545.1:c.1046C= ENSP00000506733.1:p.Ala349=
ENST00000684624.1:n.423C=
ENST00000684714.1:c.1046C= ENSP00000506861.1:p.Ala349=
ENST00000684731.1:n.507C=
XM_011540619.1:c.887C= XP_011538921.1:p.Ala296=
XM_011540620.1:c.1046C= XP_011538922.1:p.Ala349=
XM_011540621.1:c.395C= XP_011538923.1:p.Ala132=