Canonical Allele Identifier: CA338643941

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2275167
• gnomAD v4: 1-16053757-C-A
• MyVariant Identifiers: chr1:g.16380252C>A (hg19) ; chr1:g.16053757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16053757C>A , CM000663.2:g.16053757C>A	GRCh38
NC_000001.10:g.16380252C>A , CM000663.1:g.16380252C>A	GRCh37
NC_000001.9:g.16252839C>A	NCBI36
NG_013079.1:g.15006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1741C>A	ENSP00000507062.1:p.Leu581Met
ENST00000682793.1:c.1741C>A	ENSP00000506910.1:p.Leu581Met
ENST00000682838.1:c.*1483C>A	ENSP00000507652.1:n.*1483C>A
ENST00000683578.1:c.1741C>A	ENSP00000507430.1:p.Leu581Met
ENST00000683606.1:n.1347C>A
ENST00000683661.1:n.3276C>A
ENST00000684324.1:c.1741C>A	ENSP00000507937.1:p.Leu581Met
ENST00000684545.1:c.1741C>A	ENSP00000506733.1:p.Leu581Met
ENST00000684624.1:n.1118C>A
ENST00000684714.1:c.1707+34C>A	ENSP00000506861.1:n.1707+34C>A
ENST00000684731.1:n.1083+1346C>A
ENST00000375679.9:c.1741C>A MANE Select	ENSP00000364831.5:p.Leu581Met
ENST00000375667.7:c.1234C>A	ENSP00000364819.3:p.Leu412Met
ENST00000375679.8:c.1741C>A	ENSP00000364831.4:p.Leu581Met
ENST00000431772.1:c.208C>A	ENSP00000389344.1:p.Leu70Met
ENST00000619181.4:c.1293+67C>A	ENSP00000483866.1:n.1293+67C>A
NM_000085.4:c.1741C>A	NP_000076.2:p.Leu581Met
NM_001165945.2:c.1234C>A	NP_001159417.2:p.Leu412Met
XM_011540619.1:c.1582C>A	XP_011538921.1:p.Leu528Met
XM_011540621.1:c.1090C>A	XP_011538923.1:p.Leu364Met
NM_000085.5:c.1741C>A MANE Select	NP_000076.2:p.Leu581Met