Canonical Allele Identifier: CA623392

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 711111
• ClinVar RCV Id: RCV000882814
• dbSNP Id: rs142452354
• ExAC: 1:16375037 G / T
• gnomAD v2: 1-16375037-G-T
• gnomAD v3: 1-16048542-G-T
• gnomAD v4: 1-16048542-G-T
• MyVariant Identifiers: chr1:g.16375037G>T (hg19) ; chr1:g.16048542G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048542G>T , CM000663.2:g.16048542G>T	GRCh38
NC_000001.10:g.16375037G>T , CM000663.1:g.16375037G>T	GRCh37
NC_000001.9:g.16247624G>T	NCBI36
NG_013079.1:g.9791G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.615G>T	ENSP00000507062.1:p.Ala205=
ENST00000682793.1:c.615G>T	ENSP00000506910.1:p.Ala205=
ENST00000682838.1:c.*273G>T	ENSP00000507652.1:n.*273G>T
ENST00000683578.1:c.615G>T	ENSP00000507430.1:p.Ala205=
ENST00000683661.1:n.2150G>T
ENST00000684324.1:c.615G>T	ENSP00000507937.1:p.Ala205=
ENST00000684545.1:c.615G>T	ENSP00000506733.1:p.Ala205=
ENST00000684714.1:c.615G>T	ENSP00000506861.1:p.Ala205=
ENST00000684731.1:n.76G>T
ENST00000375679.9:c.615G>T MANE Select	ENSP00000364831.5:p.Ala205=
ENST00000375679.8:c.615G>T	ENSP00000364831.4:p.Ala205=
ENST00000619181.4:c.587+28G>T	ENSP00000483866.1:n.587+28G>T
NM_000085.4:c.615G>T	NP_000076.2:p.Ala205=
XM_011540619.1:c.456G>T	XP_011538921.1:p.Ala152=
XM_011540620.1:c.615G>T	XP_011538922.1:p.Ala205=
NM_000085.5:c.615G>T MANE Select	NP_000076.2:p.Ala205=