Canonical Allele Identifier: CA521460322

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 1805279
• ClinVar RCV Id: RCV002471697
• dbSNP Id: rs1557468189
• gnomAD v2: 1-16375040-AG-A
• gnomAD v4: 1-16048545-AG-A
• MyVariant Identifiers: chr1:g.16375041del (hg19) ; chr1:g.16048546del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048546del , CM000663.2:g.16048546del	GRCh38
NC_000001.10:g.16375041del , CM000663.1:g.16375041del	GRCh37
NC_000001.9:g.16247628del	NCBI36
NG_013079.1:g.9795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.619del	ENSP00000507062.1:p.Val207TrpfsTer?
ENST00000682793.1:c.619del	ENSP00000506910.1:p.Val207TrpfsTer?
ENST00000682838.1:c.*277del	ENSP00000507652.1:n.*277del
ENST00000683578.1:c.619del	ENSP00000507430.1:p.Val207TrpfsTer?
ENST00000683661.1:n.2154del
ENST00000684324.1:c.619del	ENSP00000507937.1:p.Val207TrpfsTer?
ENST00000684545.1:c.619del	ENSP00000506733.1:p.Val207TrpfsTer?
ENST00000684714.1:c.619del	ENSP00000506861.1:p.Val207TrpfsTer?
ENST00000684731.1:n.80del
ENST00000375679.9:c.619del MANE Select	ENSP00000364831.5:p.Val207TrpfsTer?
ENST00000375679.8:c.619del	ENSP00000364831.4:p.Val207TrpfsTer?
ENST00000619181.4:c.587+32del	ENSP00000483866.1:n.587+32del
NM_000085.4:c.619del	NP_000076.2:p.Val207TrpfsTer?
XM_011540619.1:c.460del	XP_011538921.1:p.Val154TrpfsTer?
XM_011540620.1:c.619del	XP_011538922.1:p.Val207TrpfsTer?
NM_000085.5:c.619del MANE Select	NP_000076.2:p.Val207TrpfsTer?