Canonical Allele Identifier: CA118915

Gene: CLCNKB

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000085.5:c.1046C>A MANE Select	NP_000076.2:p.Ala349Asp
ENST00000375679.9:c.1046C>A MANE Select	ENSP00000364831.5:p.Ala349Asp
NM_000085.4:c.1046C>A	NP_000076.2:p.Ala349Asp
NM_001165945.2:c.539C>A	NP_001159417.2:p.Ala180Asp
ENST00000375667.7:c.539C>A	ENSP00000364819.3:p.Ala180Asp
ENST00000375679.8:c.1046C>A	ENSP00000364831.4:p.Ala349Asp
ENST00000619181.4:c.665C>A	ENSP00000483866.1:p.Ala222Asp
ENST00000682338.1:c.1046C>A	ENSP00000507062.1:p.Ala349Asp
ENST00000682793.1:c.1046C>A	ENSP00000506910.1:p.Ala349Asp
ENST00000682838.1:c.*788C>A	ENSP00000507652.1:n.*788C>A
ENST00000683578.1:c.1046C>A	ENSP00000507430.1:p.Ala349Asp
ENST00000683606.1:n.661C>A
ENST00000683661.1:n.2581C>A
ENST00000684324.1:c.1046C>A	ENSP00000507937.1:p.Ala349Asp
ENST00000684545.1:c.1046C>A	ENSP00000506733.1:p.Ala349Asp
ENST00000684624.1:n.423C>A
ENST00000684714.1:c.1046C>A	ENSP00000506861.1:p.Ala349Asp
ENST00000684731.1:n.507C>A
XM_011540619.1:c.887C>A	XP_011538921.1:p.Ala296Asp
XM_011540620.1:c.1046C>A	XP_011538922.1:p.Ala349Asp
XM_011540621.1:c.395C>A	XP_011538923.1:p.Ala132Asp