Canonical Allele Identifier: CA416256551

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381970G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055475G>A , CM000663.2:g.16055475G>A	GRCh38
NC_000001.10:g.16381970G>A , CM000663.1:g.16381970G>A	GRCh37
NC_000001.9:g.16254557G>A	NCBI36
NG_013079.1:g.16724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1797G>A	ENSP00000507062.1:p.Leu599=
ENST00000682793.1:c.1797G>A	ENSP00000506910.1:p.Leu599=
ENST00000682838.1:c.*1539G>A	ENSP00000507652.1:n.*1539G>A
ENST00000683578.1:c.1797G>A	ENSP00000507430.1:p.Leu599=
ENST00000683606.1:n.1403G>A
ENST00000683661.1:n.3332G>A
ENST00000684324.1:c.1797G>A	ENSP00000507937.1:p.Leu599=
ENST00000684545.1:c.1797G>A	ENSP00000506733.1:p.Leu599=
ENST00000684624.1:n.1174G>A
ENST00000684714.1:c.*17G>A	ENSP00000506861.1:n.*17G>A
ENST00000684731.1:n.1124G>A
ENST00000375679.9:c.1797G>A MANE Select	ENSP00000364831.5:p.Leu599=
ENST00000375667.7:c.1290G>A	ENSP00000364819.3:p.Leu430=
ENST00000375679.8:c.1797G>A	ENSP00000364831.4:p.Leu599=
ENST00000431772.1:c.264G>A	ENSP00000389344.1:p.Leu88=
ENST00000619181.4:c.1294-1712G>A	ENSP00000483866.1:n.1294-1712G>A
NM_000085.4:c.1797G>A	NP_000076.2:p.Leu599=
NM_001165945.2:c.1290G>A	NP_001159417.2:p.Leu430=
XM_011540619.1:c.1638G>A	XP_011538921.1:p.Leu546=
XM_011540621.1:c.1146G>A	XP_011538923.1:p.Leu382=
NM_000085.5:c.1797G>A MANE Select	NP_000076.2:p.Leu599=