Canonical Allele Identifier: CA416256698

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16382006T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055511T>G , CM000663.2:g.16055511T>G	GRCh38
NC_000001.10:g.16382006T>G , CM000663.1:g.16382006T>G	GRCh37
NC_000001.9:g.16254593T>G	NCBI36
NG_013079.1:g.16760T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1833T>G	ENSP00000507062.1:p.Ala611=
ENST00000682793.1:c.1833T>G	ENSP00000506910.1:p.Ala611=
ENST00000682838.1:c.*1575T>G	ENSP00000507652.1:n.*1575T>G
ENST00000683578.1:c.1833T>G	ENSP00000507430.1:p.Ala611=
ENST00000683606.1:n.1439T>G
ENST00000683661.1:n.3368T>G
ENST00000684324.1:c.1833T>G	ENSP00000507937.1:p.Ala611=
ENST00000684545.1:c.1833T>G	ENSP00000506733.1:p.Ala611=
ENST00000684624.1:n.1210T>G
ENST00000684714.1:c.*53T>G	ENSP00000506861.1:n.*53T>G
ENST00000684731.1:n.1160T>G
ENST00000375679.9:c.1833T>G MANE Select	ENSP00000364831.5:p.Ala611=
ENST00000375667.7:c.1326T>G	ENSP00000364819.3:p.Ala442=
ENST00000375679.8:c.1833T>G	ENSP00000364831.4:p.Ala611=
ENST00000431772.1:c.300T>G	ENSP00000389344.1:p.Ala100=
ENST00000619181.4:c.1294-1676T>G	ENSP00000483866.1:n.1294-1676T>G
NM_000085.4:c.1833T>G	NP_000076.2:p.Ala611=
NM_001165945.2:c.1326T>G	NP_001159417.2:p.Ala442=
XM_011540619.1:c.1674T>G	XP_011538921.1:p.Ala558=
XM_011540621.1:c.1182T>G	XP_011538923.1:p.Ala394=
NM_000085.5:c.1833T>G MANE Select	NP_000076.2:p.Ala611=