Canonical Allele Identifier: CA18336572

Gene: CLCNKB

Linked Data

• dbSNP Id: rs544008498
• gnomAD v2: 1-16378517-C-T
• gnomAD v3: 1-16052022-C-T
• gnomAD v4: 1-16052022-C-T
• MyVariant Identifiers: chr1:g.16378517C>T (hg19) ; chr1:g.16052022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052022C>T , CM000663.2:g.16052022C>T	GRCh38
NC_000001.10:g.16378517C>T , CM000663.1:g.16378517C>T	GRCh37
NC_000001.9:g.16251104C>T	NCBI36
NG_013079.1:g.13271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1409-176C>T	ENSP00000507062.1:n.1409-176C>T
ENST00000682793.1:c.1409-176C>T	ENSP00000506910.1:n.1409-176C>T
ENST00000682838.1:c.*1151-176C>T	ENSP00000507652.1:n.*1151-176C>T
ENST00000683578.1:c.1409-176C>T	ENSP00000507430.1:n.1409-176C>T
ENST00000683606.1:n.1024-185C>T
ENST00000683661.1:n.2944-176C>T
ENST00000684324.1:c.1409-176C>T	ENSP00000507937.1:n.1409-176C>T
ENST00000684545.1:c.1409-176C>T	ENSP00000506733.1:n.1409-176C>T
ENST00000684624.1:n.786-176C>T
ENST00000684714.1:c.1409-176C>T	ENSP00000506861.1:n.1409-176C>T
ENST00000684731.1:n.870-176C>T
ENST00000375679.9:c.1409-176C>T MANE Select	ENSP00000364831.5:n.1409-176C>T
ENST00000375667.7:c.902-176C>T	ENSP00000364819.3:n.902-176C>T
ENST00000375679.8:c.1409-176C>T	ENSP00000364831.4:n.1409-176C>T
ENST00000619181.4:c.1028-176C>T	ENSP00000483866.1:n.1028-176C>T
NM_000085.4:c.1409-176C>T	NP_000076.2:n.1409-176C>T
NM_001165945.2:c.902-176C>T	NP_001159417.2:n.902-176C>T
XM_011540619.1:c.1250-176C>T	XP_011538921.1:n.1250-176C>T
XM_011540620.1:c.1409-176C>T	XP_011538922.1:n.1409-176C>T
XM_011540621.1:c.758-176C>T	XP_011538923.1:n.758-176C>T
NM_000085.5:c.1409-176C>T MANE Select	NP_000076.2:n.1409-176C>T