Canonical Allele Identifier: CA623627

Gene: CLCNKB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16049963T>C , CM000663.2:g.16049963T>C	GRCh38
NC_000001.10:g.16376458T>C , CM000663.1:g.16376458T>C	GRCh37
NC_000001.9:g.16249045T>C	NCBI36
NG_013079.1:g.11212T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000085.5:c.968+47T>C MANE Select	NP_000076.2:n.968+47T>C
ENST00000375679.9:c.968+47T>C MANE Select	ENSP00000364831.5:n.968+47T>C
NM_000085.4:c.968+47T>C	NP_000076.2:n.968+47T>C
NM_001165945.2:c.461+47T>C	NP_001159417.2:n.461+47T>C
ENST00000375667.7:c.461+47T>C	ENSP00000364819.3:n.461+47T>C
ENST00000375679.8:c.968+47T>C	ENSP00000364831.4:n.968+47T>C
ENST00000619181.4:c.588-553T>C	ENSP00000483866.1:n.588-553T>C
ENST00000682338.1:c.968+47T>C	ENSP00000507062.1:n.968+47T>C
ENST00000682793.1:c.968+47T>C	ENSP00000506910.1:n.968+47T>C
ENST00000682838.1:c.*626+47T>C	ENSP00000507652.1:n.*626+47T>C
ENST00000683578.1:c.968+47T>C	ENSP00000507430.1:n.968+47T>C
ENST00000683606.1:n.583+47T>C
ENST00000683661.1:n.2503+47T>C
ENST00000684324.1:c.968+47T>C	ENSP00000507937.1:n.968+47T>C
ENST00000684545.1:c.968+47T>C	ENSP00000506733.1:n.968+47T>C
ENST00000684624.1:n.345+47T>C
ENST00000684714.1:c.968+47T>C	ENSP00000506861.1:n.968+47T>C
ENST00000684731.1:n.429+47T>C
XM_011540619.1:c.809+47T>C	XP_011538921.1:n.809+47T>C
XM_011540620.1:c.968+47T>C	XP_011538922.1:n.968+47T>C
XM_011540621.1:c.317+47T>C	XP_011538923.1:n.317+47T>C