Canonical Allele Identifier: CA624028

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 1368982
• ClinVar RCV Id: RCV001867766
• dbSNP Id: rs149940233
• ExAC: 1:16381957 G / A
• gnomAD v2: 1-16381957-G-A
• gnomAD v3: 1-16055462-G-A
• gnomAD v4: 1-16055462-G-A
• MyVariant Identifiers: chr1:g.16381957G>A (hg19) ; chr1:g.16055462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055462G>A , CM000663.2:g.16055462G>A	GRCh38
NC_000001.10:g.16381957G>A , CM000663.1:g.16381957G>A	GRCh37
NC_000001.9:g.16254544G>A	NCBI36
NG_013079.1:g.16711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1784G>A	ENSP00000507062.1:p.Arg595Gln
ENST00000682793.1:c.1784G>A	ENSP00000506910.1:p.Arg595Gln
ENST00000682838.1:c.*1526G>A	ENSP00000507652.1:n.*1526G>A
ENST00000683578.1:c.1784G>A	ENSP00000507430.1:p.Arg595Gln
ENST00000683606.1:n.1390G>A
ENST00000683661.1:n.3319G>A
ENST00000684324.1:c.1784G>A	ENSP00000507937.1:p.Arg595Gln
ENST00000684545.1:c.1784G>A	ENSP00000506733.1:p.Arg595Gln
ENST00000684624.1:n.1161G>A
ENST00000684714.1:c.*4G>A	ENSP00000506861.1:n.*4G>A
ENST00000684731.1:n.1111G>A
ENST00000375679.9:c.1784G>A MANE Select	ENSP00000364831.5:p.Arg595Gln
ENST00000375667.7:c.1277G>A	ENSP00000364819.3:p.Arg426Gln
ENST00000375679.8:c.1784G>A	ENSP00000364831.4:p.Arg595Gln
ENST00000431772.1:c.251G>A	ENSP00000389344.1:p.Arg84Gln
ENST00000619181.4:c.1294-1725G>A	ENSP00000483866.1:n.1294-1725G>A
NM_000085.4:c.1784G>A	NP_000076.2:p.Arg595Gln
NM_001165945.2:c.1277G>A	NP_001159417.2:p.Arg426Gln
XM_011540619.1:c.1625G>A	XP_011538921.1:p.Arg542Gln
XM_011540621.1:c.1133G>A	XP_011538923.1:p.Arg378Gln
NM_000085.5:c.1784G>A MANE Select	NP_000076.2:p.Arg595Gln