Canonical Allele Identifier: CA338644597

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381930A>T (hg19) ; chr1:g.16055435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055435A>T , CM000663.2:g.16055435A>T	GRCh38
NC_000001.10:g.16381930A>T , CM000663.1:g.16381930A>T	GRCh37
NC_000001.9:g.16254517A>T	NCBI36
NG_013079.1:g.16684A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1757A>T	ENSP00000507062.1:p.Glu586Val
ENST00000682793.1:c.1757A>T	ENSP00000506910.1:p.Glu586Val
ENST00000682838.1:c.*1499A>T	ENSP00000507652.1:n.*1499A>T
ENST00000683578.1:c.1757A>T	ENSP00000507430.1:p.Glu586Val
ENST00000683606.1:n.1363A>T
ENST00000683661.1:n.3292A>T
ENST00000684324.1:c.1757A>T	ENSP00000507937.1:p.Glu586Val
ENST00000684545.1:c.1757A>T	ENSP00000506733.1:p.Glu586Val
ENST00000684624.1:n.1134A>T
ENST00000684714.1:c.1708A>T	ENSP00000506861.1:p.Ser570Cys
ENST00000684731.1:n.1084A>T
ENST00000375679.9:c.1757A>T MANE Select	ENSP00000364831.5:p.Glu586Val
ENST00000375667.7:c.1250A>T	ENSP00000364819.3:p.Glu417Val
ENST00000375679.8:c.1757A>T	ENSP00000364831.4:p.Glu586Val
ENST00000431772.1:c.224A>T	ENSP00000389344.1:p.Glu75Val
ENST00000619181.4:c.1293+1745A>T	ENSP00000483866.1:n.1293+1745A>T
NM_000085.4:c.1757A>T	NP_000076.2:p.Glu586Val
NM_001165945.2:c.1250A>T	NP_001159417.2:p.Glu417Val
XM_011540619.1:c.1598A>T	XP_011538921.1:p.Glu533Val
XM_011540621.1:c.1106A>T	XP_011538923.1:p.Glu369Val
NM_000085.5:c.1757A>T MANE Select	NP_000076.2:p.Glu586Val