Canonical Allele Identifier: CA2643568983

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16051173-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051173T>C , CM000663.2:g.16051173T>C	GRCh38
NC_000001.10:g.16377668T>C , CM000663.1:g.16377668T>C	GRCh37
NC_000001.9:g.16250255T>C	NCBI36
NG_013079.1:g.12422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1227+125T>C	ENSP00000507062.1:n.1227+125T>C
ENST00000682793.1:c.1227+125T>C	ENSP00000506910.1:n.1227+125T>C
ENST00000682838.1:c.*969+125T>C	ENSP00000507652.1:n.*969+125T>C
ENST00000683578.1:c.1227+125T>C	ENSP00000507430.1:n.1227+125T>C
ENST00000683606.1:n.842+125T>C
ENST00000683661.1:n.2762+125T>C
ENST00000684324.1:c.1227+125T>C	ENSP00000507937.1:n.1227+125T>C
ENST00000684545.1:c.1227+125T>C	ENSP00000506733.1:n.1227+125T>C
ENST00000684624.1:n.604+125T>C
ENST00000684714.1:c.1227+125T>C	ENSP00000506861.1:n.1227+125T>C
ENST00000684731.1:n.688+125T>C
ENST00000375679.9:c.1227+125T>C MANE Select	ENSP00000364831.5:n.1227+125T>C
ENST00000375667.7:c.720+125T>C	ENSP00000364819.3:n.720+125T>C
ENST00000375679.8:c.1227+125T>C	ENSP00000364831.4:n.1227+125T>C
ENST00000619181.4:c.846+125T>C	ENSP00000483866.1:n.846+125T>C
NM_000085.4:c.1227+125T>C	NP_000076.2:n.1227+125T>C
NM_001165945.2:c.720+125T>C	NP_001159417.2:n.720+125T>C
XM_011540619.1:c.1068+125T>C	XP_011538921.1:n.1068+125T>C
XM_011540620.1:c.1227+125T>C	XP_011538922.1:n.1227+125T>C
XM_011540621.1:c.576+125T>C	XP_011538923.1:n.576+125T>C
NM_000085.5:c.1227+125T>C MANE Select	NP_000076.2:n.1227+125T>C