Canonical Allele Identifier: CA338640861

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 497329
• ClinVar RCV Id: RCV000595618
• dbSNP Id: rs1286624133
• gnomAD v2: 1-16377482-G-A
• gnomAD v3: 1-16050987-G-A
• gnomAD v4: 1-16050987-G-A
• COSMIC: COSM4024661 ; COSM4024662
• MyVariant Identifiers: chr1:g.16377482G>A (hg19) ; chr1:g.16050987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16050987G>A , CM000663.2:g.16050987G>A	GRCh38
NC_000001.10:g.16377482G>A , CM000663.1:g.16377482G>A	GRCh37
NC_000001.9:g.16250069G>A	NCBI36
NG_013079.1:g.12236G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1166G>A	ENSP00000507062.1:p.Trp389Ter
ENST00000682793.1:c.1166G>A	ENSP00000506910.1:p.Trp389Ter
ENST00000682838.1:c.*908G>A	ENSP00000507652.1:n.*908G>A
ENST00000683578.1:c.1166G>A	ENSP00000507430.1:p.Trp389Ter
ENST00000683606.1:n.781G>A
ENST00000683661.1:n.2701G>A
ENST00000684324.1:c.1166G>A	ENSP00000507937.1:p.Trp389Ter
ENST00000684545.1:c.1166G>A	ENSP00000506733.1:p.Trp389Ter
ENST00000684624.1:n.543G>A
ENST00000684714.1:c.1166G>A	ENSP00000506861.1:p.Trp389Ter
ENST00000684731.1:n.627G>A
ENST00000375679.9:c.1166G>A MANE Select	ENSP00000364831.5:p.Trp389Ter
ENST00000375667.7:c.659G>A	ENSP00000364819.3:p.Trp220Ter
ENST00000375679.8:c.1166G>A	ENSP00000364831.4:p.Trp389Ter
ENST00000619181.4:c.785G>A	ENSP00000483866.1:p.Trp262Ter
NM_000085.4:c.1166G>A	NP_000076.2:p.Trp389Ter
NM_001165945.2:c.659G>A	NP_001159417.2:p.Trp220Ter
XM_011540619.1:c.1007G>A	XP_011538921.1:p.Trp336Ter
XM_011540620.1:c.1166G>A	XP_011538922.1:p.Trp389Ter
XM_011540621.1:c.515G>A	XP_011538923.1:p.Trp172Ter
NM_000085.5:c.1166G>A MANE Select	NP_000076.2:p.Trp389Ter