Canonical Allele Identifier: CA623812

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 2055600
• ClinVar RCV Id: RCV002938123 ; RCV003317629
• dbSNP Id: rs201540273
• ExAC: 1:16378220 G / A
• gnomAD v2: 1-16378220-G-A
• gnomAD v3: 1-16051725-G-A
• gnomAD v4: 1-16051725-G-A
• COSMIC: COSM243720 ; COSM3399946
• MyVariant Identifiers: chr1:g.16378220G>A (hg19) ; chr1:g.16051725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051725G>A , CM000663.2:g.16051725G>A	GRCh38
NC_000001.10:g.16378220G>A , CM000663.1:g.16378220G>A	GRCh37
NC_000001.9:g.16250807G>A	NCBI36
NG_013079.1:g.12974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1313G>A	ENSP00000507062.1:p.Arg438His
ENST00000682793.1:c.1313G>A	ENSP00000506910.1:p.Arg438His
ENST00000682838.1:c.*1055G>A	ENSP00000507652.1:n.*1055G>A
ENST00000683578.1:c.1313G>A	ENSP00000507430.1:p.Arg438His
ENST00000683606.1:n.928G>A
ENST00000683661.1:n.2848G>A
ENST00000684324.1:c.1313G>A	ENSP00000507937.1:p.Arg438His
ENST00000684545.1:c.1313G>A	ENSP00000506733.1:p.Arg438His
ENST00000684624.1:n.690G>A
ENST00000684714.1:c.1313G>A	ENSP00000506861.1:p.Arg438His
ENST00000684731.1:n.774G>A
ENST00000375679.9:c.1313G>A MANE Select	ENSP00000364831.5:p.Arg438His
ENST00000375667.7:c.806G>A	ENSP00000364819.3:p.Arg269His
ENST00000375679.8:c.1313G>A	ENSP00000364831.4:p.Arg438His
ENST00000619181.4:c.932G>A	ENSP00000483866.1:p.Arg311His
NM_000085.4:c.1313G>A	NP_000076.2:p.Arg438His
NM_001165945.2:c.806G>A	NP_001159417.2:p.Arg269His
XM_011540619.1:c.1154G>A	XP_011538921.1:p.Arg385His
XM_011540620.1:c.1313G>A	XP_011538922.1:p.Arg438His
XM_011540621.1:c.662G>A	XP_011538923.1:p.Arg221His
NM_000085.5:c.1313G>A MANE Select	NP_000076.2:p.Arg438His