Canonical Allele Identifier: CA338641353

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16378226T>G (hg19) ; chr1:g.16051731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051731T>G , CM000663.2:g.16051731T>G	GRCh38
NC_000001.10:g.16378226T>G , CM000663.1:g.16378226T>G	GRCh37
NC_000001.9:g.16250813T>G	NCBI36
NG_013079.1:g.12980T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1319T>G	ENSP00000507062.1:p.Phe440Cys
ENST00000682793.1:c.1319T>G	ENSP00000506910.1:p.Phe440Cys
ENST00000682838.1:c.*1061T>G	ENSP00000507652.1:n.*1061T>G
ENST00000683578.1:c.1319T>G	ENSP00000507430.1:p.Phe440Cys
ENST00000683606.1:n.934T>G
ENST00000683661.1:n.2854T>G
ENST00000684324.1:c.1319T>G	ENSP00000507937.1:p.Phe440Cys
ENST00000684545.1:c.1319T>G	ENSP00000506733.1:p.Phe440Cys
ENST00000684624.1:n.696T>G
ENST00000684714.1:c.1319T>G	ENSP00000506861.1:p.Phe440Cys
ENST00000684731.1:n.780T>G
ENST00000375679.9:c.1319T>G MANE Select	ENSP00000364831.5:p.Phe440Cys
ENST00000375667.7:c.812T>G	ENSP00000364819.3:p.Phe271Cys
ENST00000375679.8:c.1319T>G	ENSP00000364831.4:p.Phe440Cys
ENST00000619181.4:c.938T>G	ENSP00000483866.1:p.Phe313Cys
NM_000085.4:c.1319T>G	NP_000076.2:p.Phe440Cys
NM_001165945.2:c.812T>G	NP_001159417.2:p.Phe271Cys
XM_011540619.1:c.1160T>G	XP_011538921.1:p.Phe387Cys
XM_011540620.1:c.1319T>G	XP_011538922.1:p.Phe440Cys
XM_011540621.1:c.668T>G	XP_011538923.1:p.Phe223Cys
NM_000085.5:c.1319T>G MANE Select	NP_000076.2:p.Phe440Cys