Canonical Allele Identifier: CA338641924

Gene: CLCNKB

Linked Data

• dbSNP Id: rs773752495
• gnomAD v2: 1-16378698-G-T
• gnomAD v4: 1-16052203-G-T
• MyVariant Identifiers: chr1:g.16378698G>T (hg19) ; chr1:g.16052203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052203G>T , CM000663.2:g.16052203G>T	GRCh38
NC_000001.10:g.16378698G>T , CM000663.1:g.16378698G>T	GRCh37
NC_000001.9:g.16251285G>T	NCBI36
NG_013079.1:g.13452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1414G>T	ENSP00000507062.1:p.Ala472Ser
ENST00000682793.1:c.1414G>T	ENSP00000506910.1:p.Ala472Ser
ENST00000682838.1:c.*1156G>T	ENSP00000507652.1:n.*1156G>T
ENST00000683578.1:c.1414G>T	ENSP00000507430.1:p.Ala472Ser
ENST00000683606.1:n.1024-4G>T
ENST00000683661.1:n.2949G>T
ENST00000684324.1:c.1414G>T	ENSP00000507937.1:p.Ala472Ser
ENST00000684545.1:c.1414G>T	ENSP00000506733.1:p.Ala472Ser
ENST00000684624.1:n.791G>T
ENST00000684714.1:c.1414G>T	ENSP00000506861.1:p.Ala472Ser
ENST00000684731.1:n.875G>T
ENST00000375679.9:c.1414G>T MANE Select	ENSP00000364831.5:p.Ala472Ser
ENST00000375667.7:c.907G>T	ENSP00000364819.3:p.Ala303Ser
ENST00000375679.8:c.1414G>T	ENSP00000364831.4:p.Ala472Ser
ENST00000619181.4:c.1033G>T	ENSP00000483866.1:p.Ala345Ser
NM_000085.4:c.1414G>T	NP_000076.2:p.Ala472Ser
NM_001165945.2:c.907G>T	NP_001159417.2:p.Ala303Ser
XM_011540619.1:c.1255G>T	XP_011538921.1:p.Ala419Ser
XM_011540620.1:c.1414G>T	XP_011538922.1:p.Ala472Ser
XM_011540621.1:c.763G>T	XP_011538923.1:p.Ala255Ser
NM_000085.5:c.1414G>T MANE Select	NP_000076.2:p.Ala472Ser