Canonical Allele Identifier: CA18336035

Gene: CLCNKB

Linked Data

• dbSNP Id: rs200239825
• gnomAD v2: 1-16378213-A-G
• gnomAD v3: 1-16051718-A-G
• gnomAD v4: 1-16051718-A-G
• MyVariant Identifiers: chr1:g.16378213A>G (hg19) ; chr1:g.16051718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051718A>G , CM000663.2:g.16051718A>G	GRCh38
NC_000001.10:g.16378213A>G , CM000663.1:g.16378213A>G	GRCh37
NC_000001.9:g.16250800A>G	NCBI36
NG_013079.1:g.12967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1306A>G	ENSP00000507062.1:p.Ile436Val
ENST00000682793.1:c.1306A>G	ENSP00000506910.1:p.Ile436Val
ENST00000682838.1:c.*1048A>G	ENSP00000507652.1:n.*1048A>G
ENST00000683578.1:c.1306A>G	ENSP00000507430.1:p.Ile436Val
ENST00000683606.1:n.921A>G
ENST00000683661.1:n.2841A>G
ENST00000684324.1:c.1306A>G	ENSP00000507937.1:p.Ile436Val
ENST00000684545.1:c.1306A>G	ENSP00000506733.1:p.Ile436Val
ENST00000684624.1:n.683A>G
ENST00000684714.1:c.1306A>G	ENSP00000506861.1:p.Ile436Val
ENST00000684731.1:n.767A>G
ENST00000375679.9:c.1306A>G MANE Select	ENSP00000364831.5:p.Ile436Val
ENST00000375667.7:c.799A>G	ENSP00000364819.3:p.Ile267Val
ENST00000375679.8:c.1306A>G	ENSP00000364831.4:p.Ile436Val
ENST00000619181.4:c.925A>G	ENSP00000483866.1:p.Ile309Val
NM_000085.4:c.1306A>G	NP_000076.2:p.Ile436Val
NM_001165945.2:c.799A>G	NP_001159417.2:p.Ile267Val
XM_011540619.1:c.1147A>G	XP_011538921.1:p.Ile383Val
XM_011540620.1:c.1306A>G	XP_011538922.1:p.Ile436Val
XM_011540621.1:c.655A>G	XP_011538923.1:p.Ile219Val
NM_000085.5:c.1306A>G MANE Select	NP_000076.2:p.Ile436Val