Canonical Allele Identifier: CA338644703

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381959A>T (hg19) ; chr1:g.16055464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055464A>T , CM000663.2:g.16055464A>T	GRCh38
NC_000001.10:g.16381959A>T , CM000663.1:g.16381959A>T	GRCh37
NC_000001.9:g.16254546A>T	NCBI36
NG_013079.1:g.16713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1786A>T	ENSP00000507062.1:p.Arg596Trp
ENST00000682793.1:c.1786A>T	ENSP00000506910.1:p.Arg596Trp
ENST00000682838.1:c.*1528A>T	ENSP00000507652.1:n.*1528A>T
ENST00000683578.1:c.1786A>T	ENSP00000507430.1:p.Arg596Trp
ENST00000683606.1:n.1392A>T
ENST00000683661.1:n.3321A>T
ENST00000684324.1:c.1786A>T	ENSP00000507937.1:p.Arg596Trp
ENST00000684545.1:c.1786A>T	ENSP00000506733.1:p.Arg596Trp
ENST00000684624.1:n.1163A>T
ENST00000684714.1:c.*6A>T	ENSP00000506861.1:n.*6A>T
ENST00000684731.1:n.1113A>T
ENST00000375679.9:c.1786A>T MANE Select	ENSP00000364831.5:p.Arg596Trp
ENST00000375667.7:c.1279A>T	ENSP00000364819.3:p.Arg427Trp
ENST00000375679.8:c.1786A>T	ENSP00000364831.4:p.Arg596Trp
ENST00000431772.1:c.253A>T	ENSP00000389344.1:p.Arg85Trp
ENST00000619181.4:c.1294-1723A>T	ENSP00000483866.1:n.1294-1723A>T
NM_000085.4:c.1786A>T	NP_000076.2:p.Arg596Trp
NM_001165945.2:c.1279A>T	NP_001159417.2:p.Arg427Trp
XM_011540619.1:c.1627A>T	XP_011538921.1:p.Arg543Trp
XM_011540621.1:c.1135A>T	XP_011538923.1:p.Arg379Trp
NM_000085.5:c.1786A>T MANE Select	NP_000076.2:p.Arg596Trp