Canonical Allele Identifier: CA338644714

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381962G>T (hg19) ; chr1:g.16055467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055467G>T , CM000663.2:g.16055467G>T	GRCh38
NC_000001.10:g.16381962G>T , CM000663.1:g.16381962G>T	GRCh37
NC_000001.9:g.16254549G>T	NCBI36
NG_013079.1:g.16716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1789G>T	ENSP00000507062.1:p.Ala597Ser
ENST00000682793.1:c.1789G>T	ENSP00000506910.1:p.Ala597Ser
ENST00000682838.1:c.*1531G>T	ENSP00000507652.1:n.*1531G>T
ENST00000683578.1:c.1789G>T	ENSP00000507430.1:p.Ala597Ser
ENST00000683606.1:n.1395G>T
ENST00000683661.1:n.3324G>T
ENST00000684324.1:c.1789G>T	ENSP00000507937.1:p.Ala597Ser
ENST00000684545.1:c.1789G>T	ENSP00000506733.1:p.Ala597Ser
ENST00000684624.1:n.1166G>T
ENST00000684714.1:c.*9G>T	ENSP00000506861.1:n.*9G>T
ENST00000684731.1:n.1116G>T
ENST00000375679.9:c.1789G>T MANE Select	ENSP00000364831.5:p.Ala597Ser
ENST00000375667.7:c.1282G>T	ENSP00000364819.3:p.Ala428Ser
ENST00000375679.8:c.1789G>T	ENSP00000364831.4:p.Ala597Ser
ENST00000431772.1:c.256G>T	ENSP00000389344.1:p.Ala86Ser
ENST00000619181.4:c.1294-1720G>T	ENSP00000483866.1:n.1294-1720G>T
NM_000085.4:c.1789G>T	NP_000076.2:p.Ala597Ser
NM_001165945.2:c.1282G>T	NP_001159417.2:p.Ala428Ser
XM_011540619.1:c.1630G>T	XP_011538921.1:p.Ala544Ser
XM_011540621.1:c.1138G>T	XP_011538923.1:p.Ala380Ser
NM_000085.5:c.1789G>T MANE Select	NP_000076.2:p.Ala597Ser