Canonical Allele Identifier: CA623810

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 801449
• ClinVar RCV Id: RCV000986255 ; RCV001328286 ; RCV002549662
• dbSNP Id: rs755714542
• ExAC: 1:16378216 G / A
• gnomAD v2: 1-16378216-G-A
• gnomAD v3: 1-16051721-G-A
• gnomAD v4: 1-16051721-G-A
• MyVariant Identifiers: chr1:g.16378216G>A (hg19) ; chr1:g.16051721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051721G>A , CM000663.2:g.16051721G>A	GRCh38
NC_000001.10:g.16378216G>A , CM000663.1:g.16378216G>A	GRCh37
NC_000001.9:g.16250803G>A	NCBI36
NG_013079.1:g.12970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1309G>A	ENSP00000507062.1:p.Gly437Arg
ENST00000682793.1:c.1309G>A	ENSP00000506910.1:p.Gly437Arg
ENST00000682838.1:c.*1051G>A	ENSP00000507652.1:n.*1051G>A
ENST00000683578.1:c.1309G>A	ENSP00000507430.1:p.Gly437Arg
ENST00000683606.1:n.924G>A
ENST00000683661.1:n.2844G>A
ENST00000684324.1:c.1309G>A	ENSP00000507937.1:p.Gly437Arg
ENST00000684545.1:c.1309G>A	ENSP00000506733.1:p.Gly437Arg
ENST00000684624.1:n.686G>A
ENST00000684714.1:c.1309G>A	ENSP00000506861.1:p.Gly437Arg
ENST00000684731.1:n.770G>A
ENST00000375679.9:c.1309G>A MANE Select	ENSP00000364831.5:p.Gly437Arg
ENST00000375667.7:c.802G>A	ENSP00000364819.3:p.Gly268Arg
ENST00000375679.8:c.1309G>A	ENSP00000364831.4:p.Gly437Arg
ENST00000619181.4:c.928G>A	ENSP00000483866.1:p.Gly310Arg
NM_000085.4:c.1309G>A	NP_000076.2:p.Gly437Arg
NM_001165945.2:c.802G>A	NP_001159417.2:p.Gly268Arg
XM_011540619.1:c.1150G>A	XP_011538921.1:p.Gly384Arg
XM_011540620.1:c.1309G>A	XP_011538922.1:p.Gly437Arg
XM_011540621.1:c.658G>A	XP_011538923.1:p.Gly220Arg
NM_000085.5:c.1309G>A MANE Select	NP_000076.2:p.Gly437Arg