Canonical Allele Identifier: CA338644873

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381991G>C (hg19) ; chr1:g.16055496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055496G>C , CM000663.2:g.16055496G>C	GRCh38
NC_000001.10:g.16381991G>C , CM000663.1:g.16381991G>C	GRCh37
NC_000001.9:g.16254578G>C	NCBI36
NG_013079.1:g.16745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1818G>C	ENSP00000507062.1:p.Glu606Asp
ENST00000682793.1:c.1818G>C	ENSP00000506910.1:p.Glu606Asp
ENST00000682838.1:c.*1560G>C	ENSP00000507652.1:n.*1560G>C
ENST00000683578.1:c.1818G>C	ENSP00000507430.1:p.Glu606Asp
ENST00000683606.1:n.1424G>C
ENST00000683661.1:n.3353G>C
ENST00000684324.1:c.1818G>C	ENSP00000507937.1:p.Glu606Asp
ENST00000684545.1:c.1818G>C	ENSP00000506733.1:p.Glu606Asp
ENST00000684624.1:n.1195G>C
ENST00000684714.1:c.*38G>C	ENSP00000506861.1:n.*38G>C
ENST00000684731.1:n.1145G>C
ENST00000375679.9:c.1818G>C MANE Select	ENSP00000364831.5:p.Glu606Asp
ENST00000375667.7:c.1311G>C	ENSP00000364819.3:p.Glu437Asp
ENST00000375679.8:c.1818G>C	ENSP00000364831.4:p.Glu606Asp
ENST00000431772.1:c.285G>C	ENSP00000389344.1:p.Glu95Asp
ENST00000619181.4:c.1294-1691G>C	ENSP00000483866.1:n.1294-1691G>C
NM_000085.4:c.1818G>C	NP_000076.2:p.Glu606Asp
NM_001165945.2:c.1311G>C	NP_001159417.2:p.Glu437Asp
XM_011540619.1:c.1659G>C	XP_011538921.1:p.Glu553Asp
XM_011540621.1:c.1167G>C	XP_011538923.1:p.Glu389Asp
NM_000085.5:c.1818G>C MANE Select	NP_000076.2:p.Glu606Asp