Canonical Allele Identifier: CA623759

Gene: CLCNKB

Linked Data

• dbSNP Id: rs762049672
• ExAC: 1:16377951 C / T
• gnomAD v2: 1-16377951-C-T
• gnomAD v4: 1-16051456-C-T
• MyVariant Identifiers: chr1:g.16377951C>T (hg19) ; chr1:g.16051456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051456C>T , CM000663.2:g.16051456C>T	GRCh38
NC_000001.10:g.16377951C>T , CM000663.1:g.16377951C>T	GRCh37
NC_000001.9:g.16250538C>T	NCBI36
NG_013079.1:g.12705C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1228-22C>T	ENSP00000507062.1:n.1228-22C>T
ENST00000682793.1:c.1228-22C>T	ENSP00000506910.1:n.1228-22C>T
ENST00000682838.1:c.*970-22C>T	ENSP00000507652.1:n.*970-22C>T
ENST00000683578.1:c.1228-22C>T	ENSP00000507430.1:n.1228-22C>T
ENST00000683606.1:n.843-22C>T
ENST00000683661.1:n.2763-22C>T
ENST00000684324.1:c.1228-22C>T	ENSP00000507937.1:n.1228-22C>T
ENST00000684545.1:c.1228-22C>T	ENSP00000506733.1:n.1228-22C>T
ENST00000684624.1:n.605-22C>T
ENST00000684714.1:c.1228-22C>T	ENSP00000506861.1:n.1228-22C>T
ENST00000684731.1:n.689-22C>T
ENST00000375679.9:c.1228-22C>T MANE Select	ENSP00000364831.5:n.1228-22C>T
ENST00000375667.7:c.721-22C>T	ENSP00000364819.3:n.721-22C>T
ENST00000375679.8:c.1228-22C>T	ENSP00000364831.4:n.1228-22C>T
ENST00000619181.4:c.847-22C>T	ENSP00000483866.1:n.847-22C>T
NM_000085.4:c.1228-22C>T	NP_000076.2:n.1228-22C>T
NM_001165945.2:c.721-22C>T	NP_001159417.2:n.721-22C>T
XM_011540619.1:c.1069-22C>T	XP_011538921.1:n.1069-22C>T
XM_011540620.1:c.1228-22C>T	XP_011538922.1:n.1228-22C>T
XM_011540621.1:c.577-22C>T	XP_011538923.1:n.577-22C>T
NM_000085.5:c.1228-22C>T MANE Select	NP_000076.2:n.1228-22C>T