Canonical Allele Identifier: CA338642028

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16378716G>T (hg19) ; chr1:g.16052221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052221G>T , CM000663.2:g.16052221G>T	GRCh38
NC_000001.10:g.16378716G>T , CM000663.1:g.16378716G>T	GRCh37
NC_000001.9:g.16251303G>T	NCBI36
NG_013079.1:g.13470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1432G>T	ENSP00000507062.1:p.Val478Leu
ENST00000682793.1:c.1432G>T	ENSP00000506910.1:p.Val478Leu
ENST00000682838.1:c.*1174G>T	ENSP00000507652.1:n.*1174G>T
ENST00000683578.1:c.1432G>T	ENSP00000507430.1:p.Val478Leu
ENST00000683606.1:n.1038G>T
ENST00000683661.1:n.2967G>T
ENST00000684324.1:c.1432G>T	ENSP00000507937.1:p.Val478Leu
ENST00000684545.1:c.1432G>T	ENSP00000506733.1:p.Val478Leu
ENST00000684624.1:n.809G>T
ENST00000684714.1:c.1432G>T	ENSP00000506861.1:p.Val478Leu
ENST00000684731.1:n.893G>T
ENST00000375679.9:c.1432G>T MANE Select	ENSP00000364831.5:p.Val478Leu
ENST00000375667.7:c.925G>T	ENSP00000364819.3:p.Val309Leu
ENST00000375679.8:c.1432G>T	ENSP00000364831.4:p.Val478Leu
ENST00000619181.4:c.1051G>T	ENSP00000483866.1:p.Val351Leu
NM_000085.4:c.1432G>T	NP_000076.2:p.Val478Leu
NM_001165945.2:c.925G>T	NP_001159417.2:p.Val309Leu
XM_011540619.1:c.1273G>T	XP_011538921.1:p.Val425Leu
XM_011540620.1:c.1432G>T	XP_011538922.1:p.Val478Leu
XM_011540621.1:c.781G>T	XP_011538923.1:p.Val261Leu
NM_000085.5:c.1432G>T MANE Select	NP_000076.2:p.Val478Leu