Canonical Allele Identifier: CA338643942

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2275167
• gnomAD v3: 1-16053757-C-G
• gnomAD v4: 1-16053757-C-G
• MyVariant Identifiers: chr1:g.16380252C>G (hg19) ; chr1:g.16053757C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1741C>G	ENSP00000507062.1:p.Leu581Val
ENST00000682793.1:c.1741C>G	ENSP00000506910.1:p.Leu581Val
ENST00000682838.1:c.*1483C>G	ENSP00000507652.1:n.*1483C>G
ENST00000683578.1:c.1741C>G	ENSP00000507430.1:p.Leu581Val
ENST00000683606.1:n.1347C>G
ENST00000683661.1:n.3276C>G
ENST00000684324.1:c.1741C>G	ENSP00000507937.1:p.Leu581Val
ENST00000684545.1:c.1741C>G	ENSP00000506733.1:p.Leu581Val
ENST00000684624.1:n.1118C>G
ENST00000684714.1:c.1707+34C>G	ENSP00000506861.1:n.1707+34C>G
ENST00000684731.1:n.1083+1346C>G
ENST00000375679.9:c.1741C>G MANE Select	ENSP00000364831.5:p.Leu581Val
ENST00000375667.7:c.1234C>G	ENSP00000364819.3:p.Leu412Val
ENST00000375679.8:c.1741C>G	ENSP00000364831.4:p.Leu581Val
ENST00000431772.1:c.208C>G	ENSP00000389344.1:p.Leu70Val
ENST00000619181.4:c.1293+67C>G	ENSP00000483866.1:n.1293+67C>G
NM_000085.4:c.1741C>G	NP_000076.2:p.Leu581Val
NM_001165945.2:c.1234C>G	NP_001159417.2:p.Leu412Val
XM_011540619.1:c.1582C>G	XP_011538921.1:p.Leu528Val
XM_011540621.1:c.1090C>G	XP_011538923.1:p.Leu364Val
NM_000085.5:c.1741C>G MANE Select	NP_000076.2:p.Leu581Val