Canonical Allele Identifier: CA338641368

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 3064072
• ClinVar RCV Id: RCV003988660
• MyVariant Identifiers: chr1:g.16378231G>A (hg19) ; chr1:g.16051736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051736G>A , CM000663.2:g.16051736G>A	GRCh38
NC_000001.10:g.16378231G>A , CM000663.1:g.16378231G>A	GRCh37
NC_000001.9:g.16250818G>A	NCBI36
NG_013079.1:g.12985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1324G>A	ENSP00000507062.1:p.Glu442Lys
ENST00000682793.1:c.1324G>A	ENSP00000506910.1:p.Glu442Lys
ENST00000682838.1:c.*1066G>A	ENSP00000507652.1:n.*1066G>A
ENST00000683578.1:c.1324G>A	ENSP00000507430.1:p.Glu442Lys
ENST00000683606.1:n.939G>A
ENST00000683661.1:n.2859G>A
ENST00000684324.1:c.1324G>A	ENSP00000507937.1:p.Glu442Lys
ENST00000684545.1:c.1324G>A	ENSP00000506733.1:p.Glu442Lys
ENST00000684624.1:n.701G>A
ENST00000684714.1:c.1324G>A	ENSP00000506861.1:p.Glu442Lys
ENST00000684731.1:n.785G>A
ENST00000375679.9:c.1324G>A MANE Select	ENSP00000364831.5:p.Glu442Lys
ENST00000375667.7:c.817G>A	ENSP00000364819.3:p.Glu273Lys
ENST00000375679.8:c.1324G>A	ENSP00000364831.4:p.Glu442Lys
ENST00000619181.4:c.943G>A	ENSP00000483866.1:p.Glu315Lys
NM_000085.4:c.1324G>A	NP_000076.2:p.Glu442Lys
NM_001165945.2:c.817G>A	NP_001159417.2:p.Glu273Lys
XM_011540619.1:c.1165G>A	XP_011538921.1:p.Glu389Lys
XM_011540620.1:c.1324G>A	XP_011538922.1:p.Glu442Lys
XM_011540621.1:c.673G>A	XP_011538923.1:p.Glu225Lys
NM_000085.5:c.1324G>A MANE Select	NP_000076.2:p.Glu442Lys