Canonical Allele Identifier: CA338641375

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16378232A>C (hg19) ; chr1:g.16051737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051737A>C , CM000663.2:g.16051737A>C	GRCh38
NC_000001.10:g.16378232A>C , CM000663.1:g.16378232A>C	GRCh37
NC_000001.9:g.16250819A>C	NCBI36
NG_013079.1:g.12986A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1325A>C	ENSP00000507062.1:p.Glu442Ala
ENST00000682793.1:c.1325A>C	ENSP00000506910.1:p.Glu442Ala
ENST00000682838.1:c.*1067A>C	ENSP00000507652.1:n.*1067A>C
ENST00000683578.1:c.1325A>C	ENSP00000507430.1:p.Glu442Ala
ENST00000683606.1:n.940A>C
ENST00000683661.1:n.2860A>C
ENST00000684324.1:c.1325A>C	ENSP00000507937.1:p.Glu442Ala
ENST00000684545.1:c.1325A>C	ENSP00000506733.1:p.Glu442Ala
ENST00000684624.1:n.702A>C
ENST00000684714.1:c.1325A>C	ENSP00000506861.1:p.Glu442Ala
ENST00000684731.1:n.786A>C
ENST00000375679.9:c.1325A>C MANE Select	ENSP00000364831.5:p.Glu442Ala
ENST00000375667.7:c.818A>C	ENSP00000364819.3:p.Glu273Ala
ENST00000375679.8:c.1325A>C	ENSP00000364831.4:p.Glu442Ala
ENST00000619181.4:c.944A>C	ENSP00000483866.1:p.Glu315Ala
NM_000085.4:c.1325A>C	NP_000076.2:p.Glu442Ala
NM_001165945.2:c.818A>C	NP_001159417.2:p.Glu273Ala
XM_011540619.1:c.1166A>C	XP_011538921.1:p.Glu389Ala
XM_011540620.1:c.1325A>C	XP_011538922.1:p.Glu442Ala
XM_011540621.1:c.674A>C	XP_011538923.1:p.Glu225Ala
NM_000085.5:c.1325A>C MANE Select	NP_000076.2:p.Glu442Ala