Canonical Allele Identifier: CA623390

Gene: CLCNKB

Linked Data

• dbSNP Id: rs757058113
• ExAC: 1:16375024 T / G
• gnomAD v3: 1-16048529-T-G
• gnomAD v4: 1-16048529-T-G
• MyVariant Identifiers: chr1:g.16375024T>G (hg19) ; chr1:g.16048529T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048529T>G , CM000663.2:g.16048529T>G	GRCh38
NC_000001.10:g.16375024T>G , CM000663.1:g.16375024T>G	GRCh37
NC_000001.9:g.16247611T>G	NCBI36
NG_013079.1:g.9778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.602T>G	ENSP00000507062.1:p.Leu201Arg
ENST00000682793.1:c.602T>G	ENSP00000506910.1:p.Leu201Arg
ENST00000682838.1:c.*260T>G	ENSP00000507652.1:n.*260T>G
ENST00000683578.1:c.602T>G	ENSP00000507430.1:p.Leu201Arg
ENST00000683661.1:n.2137T>G
ENST00000684324.1:c.602T>G	ENSP00000507937.1:p.Leu201Arg
ENST00000684545.1:c.602T>G	ENSP00000506733.1:p.Leu201Arg
ENST00000684714.1:c.602T>G	ENSP00000506861.1:p.Leu201Arg
ENST00000684731.1:n.63T>G
ENST00000375679.9:c.602T>G MANE Select	ENSP00000364831.5:p.Leu201Arg
ENST00000375679.8:c.602T>G	ENSP00000364831.4:p.Leu201Arg
ENST00000619181.4:c.587+15T>G	ENSP00000483866.1:n.587+15T>G
NM_000085.4:c.602T>G	NP_000076.2:p.Leu201Arg
XM_011540619.1:c.443T>G	XP_011538921.1:p.Leu148Arg
XM_011540620.1:c.602T>G	XP_011538922.1:p.Leu201Arg
NM_000085.5:c.602T>G MANE Select	NP_000076.2:p.Leu201Arg