Canonical Allele Identifier: CA18336558

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 1244945
• ClinVar RCV Id: RCV001649153
• dbSNP Id: rs55756465
• gnomAD v2: 1-16378495-G-A
• gnomAD v3: 1-16052000-G-A
• gnomAD v4: 1-16052000-G-A
• MyVariant Identifiers: chr1:g.16378495G>A (hg19) ; chr1:g.16052000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052000G>A , CM000663.2:g.16052000G>A	GRCh38
NC_000001.10:g.16378495G>A , CM000663.1:g.16378495G>A	GRCh37
NC_000001.9:g.16251082G>A	NCBI36
NG_013079.1:g.13249G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1408+180G>A	ENSP00000507062.1:n.1408+180G>A
ENST00000682793.1:c.1408+180G>A	ENSP00000506910.1:n.1408+180G>A
ENST00000682838.1:c.*1150+180G>A	ENSP00000507652.1:n.*1150+180G>A
ENST00000683578.1:c.1408+180G>A	ENSP00000507430.1:n.1408+180G>A
ENST00000683606.1:n.1023+180G>A
ENST00000683661.1:n.2943+180G>A
ENST00000684324.1:c.1408+180G>A	ENSP00000507937.1:n.1408+180G>A
ENST00000684545.1:c.1408+180G>A	ENSP00000506733.1:n.1408+180G>A
ENST00000684624.1:n.785+180G>A
ENST00000684714.1:c.1408+180G>A	ENSP00000506861.1:n.1408+180G>A
ENST00000684731.1:n.869+180G>A
ENST00000375679.9:c.1408+180G>A MANE Select	ENSP00000364831.5:n.1408+180G>A
ENST00000375667.7:c.901+180G>A	ENSP00000364819.3:n.901+180G>A
ENST00000375679.8:c.1408+180G>A	ENSP00000364831.4:n.1408+180G>A
ENST00000619181.4:c.1027+180G>A	ENSP00000483866.1:n.1027+180G>A
NM_000085.4:c.1408+180G>A	NP_000076.2:n.1408+180G>A
NM_001165945.2:c.901+180G>A	NP_001159417.2:n.901+180G>A
XM_011540619.1:c.1249+180G>A	XP_011538921.1:n.1249+180G>A
XM_011540620.1:c.1408+180G>A	XP_011538922.1:n.1408+180G>A
XM_011540621.1:c.757+180G>A	XP_011538923.1:n.757+180G>A
NM_000085.5:c.1408+180G>A MANE Select	NP_000076.2:n.1408+180G>A