Canonical Allele Identifier: CA416251051

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2023316091
• MyVariant Identifiers: chr1:g.16378718G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052223G>T , CM000663.2:g.16052223G>T	GRCh38
NC_000001.10:g.16378718G>T , CM000663.1:g.16378718G>T	GRCh37
NC_000001.9:g.16251305G>T	NCBI36
NG_013079.1:g.13472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1434G>T	ENSP00000507062.1:p.Val478=
ENST00000682793.1:c.1434G>T	ENSP00000506910.1:p.Val478=
ENST00000682838.1:c.*1176G>T	ENSP00000507652.1:n.*1176G>T
ENST00000683578.1:c.1434G>T	ENSP00000507430.1:p.Val478=
ENST00000683606.1:n.1040G>T
ENST00000683661.1:n.2969G>T
ENST00000684324.1:c.1434G>T	ENSP00000507937.1:p.Val478=
ENST00000684545.1:c.1434G>T	ENSP00000506733.1:p.Val478=
ENST00000684624.1:n.811G>T
ENST00000684714.1:c.1434G>T	ENSP00000506861.1:p.Val478=
ENST00000684731.1:n.895G>T
ENST00000375679.9:c.1434G>T MANE Select	ENSP00000364831.5:p.Val478=
ENST00000375667.7:c.927G>T	ENSP00000364819.3:p.Val309=
ENST00000375679.8:c.1434G>T	ENSP00000364831.4:p.Val478=
ENST00000619181.4:c.1053G>T	ENSP00000483866.1:p.Val351=
NM_000085.4:c.1434G>T	NP_000076.2:p.Val478=
NM_001165945.2:c.927G>T	NP_001159417.2:p.Val309=
XM_011540619.1:c.1275G>T	XP_011538921.1:p.Val425=
XM_011540620.1:c.1434G>T	XP_011538922.1:p.Val478=
XM_011540621.1:c.783G>T	XP_011538923.1:p.Val261=
NM_000085.5:c.1434G>T MANE Select	NP_000076.2:p.Val478=