Canonical Allele Identifier: CA623870

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 447091
• ClinVar RCV Id: RCV000516686 ; RCV000967907
• dbSNP Id: rs115910575
• ExAC: 1:16378687 T / C
• gnomAD v2: 1-16378687-T-C
• gnomAD v3: 1-16052192-T-C
• gnomAD v4: 1-16052192-T-C
• MyVariant Identifiers: chr1:g.16378687T>C (hg19) ; chr1:g.16052192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052192T>C , CM000663.2:g.16052192T>C	GRCh38
NC_000001.10:g.16378687T>C , CM000663.1:g.16378687T>C	GRCh37
NC_000001.9:g.16251274T>C	NCBI36
NG_013079.1:g.13441T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1409-6T>C	ENSP00000507062.1:n.1409-6T>C
ENST00000682793.1:c.1409-6T>C	ENSP00000506910.1:n.1409-6T>C
ENST00000682838.1:c.*1151-6T>C	ENSP00000507652.1:n.*1151-6T>C
ENST00000683578.1:c.1409-6T>C	ENSP00000507430.1:n.1409-6T>C
ENST00000683606.1:n.1024-15T>C
ENST00000683661.1:n.2944-6T>C
ENST00000684324.1:c.1409-6T>C	ENSP00000507937.1:n.1409-6T>C
ENST00000684545.1:c.1409-6T>C	ENSP00000506733.1:n.1409-6T>C
ENST00000684624.1:n.786-6T>C
ENST00000684714.1:c.1409-6T>C	ENSP00000506861.1:n.1409-6T>C
ENST00000684731.1:n.870-6T>C
ENST00000375679.9:c.1409-6T>C MANE Select	ENSP00000364831.5:n.1409-6T>C
ENST00000375667.7:c.902-6T>C	ENSP00000364819.3:n.902-6T>C
ENST00000375679.8:c.1409-6T>C	ENSP00000364831.4:n.1409-6T>C
ENST00000619181.4:c.1028-6T>C	ENSP00000483866.1:n.1028-6T>C
NM_000085.4:c.1409-6T>C	NP_000076.2:n.1409-6T>C
NM_001165945.2:c.902-6T>C	NP_001159417.2:n.902-6T>C
XM_011540619.1:c.1250-6T>C	XP_011538921.1:n.1250-6T>C
XM_011540620.1:c.1409-6T>C	XP_011538922.1:n.1409-6T>C
XM_011540621.1:c.758-6T>C	XP_011538923.1:n.758-6T>C
NM_000085.5:c.1409-6T>C MANE Select	NP_000076.2:n.1409-6T>C