Canonical Allele Identifier: CA338641307

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 1331429
• ClinVar RCV Id: RCV001806773
• dbSNP Id: rs200239825
• MyVariant Identifiers: chr1:g.16378213A>T (hg19) ; chr1:g.16051718A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1306A>T	ENSP00000507062.1:p.Ile436Phe
ENST00000682793.1:c.1306A>T	ENSP00000506910.1:p.Ile436Phe
ENST00000682838.1:c.*1048A>T	ENSP00000507652.1:n.*1048A>T
ENST00000683578.1:c.1306A>T	ENSP00000507430.1:p.Ile436Phe
ENST00000683606.1:n.921A>T
ENST00000683661.1:n.2841A>T
ENST00000684324.1:c.1306A>T	ENSP00000507937.1:p.Ile436Phe
ENST00000684545.1:c.1306A>T	ENSP00000506733.1:p.Ile436Phe
ENST00000684624.1:n.683A>T
ENST00000684714.1:c.1306A>T	ENSP00000506861.1:p.Ile436Phe
ENST00000684731.1:n.767A>T
ENST00000375679.9:c.1306A>T MANE Select	ENSP00000364831.5:p.Ile436Phe
ENST00000375667.7:c.799A>T	ENSP00000364819.3:p.Ile267Phe
ENST00000375679.8:c.1306A>T	ENSP00000364831.4:p.Ile436Phe
ENST00000619181.4:c.925A>T	ENSP00000483866.1:p.Ile309Phe
NM_000085.4:c.1306A>T	NP_000076.2:p.Ile436Phe
NM_001165945.2:c.799A>T	NP_001159417.2:p.Ile267Phe
XM_011540619.1:c.1147A>T	XP_011538921.1:p.Ile383Phe
XM_011540620.1:c.1306A>T	XP_011538922.1:p.Ile436Phe
XM_011540621.1:c.655A>T	XP_011538923.1:p.Ile219Phe
NM_000085.5:c.1306A>T MANE Select	NP_000076.2:p.Ile436Phe