Canonical Allele Identifier: CA416250891

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16052205-A-G
• MyVariant Identifiers: chr1:g.16378700A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052205A>G , CM000663.2:g.16052205A>G	GRCh38
NC_000001.10:g.16378700A>G , CM000663.1:g.16378700A>G	GRCh37
NC_000001.9:g.16251287A>G	NCBI36
NG_013079.1:g.13454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1416A>G	ENSP00000507062.1:p.Ala472=
ENST00000682793.1:c.1416A>G	ENSP00000506910.1:p.Ala472=
ENST00000682838.1:c.*1158A>G	ENSP00000507652.1:n.*1158A>G
ENST00000683578.1:c.1416A>G	ENSP00000507430.1:p.Ala472=
ENST00000683606.1:n.1024-2A>G
ENST00000683661.1:n.2951A>G
ENST00000684324.1:c.1416A>G	ENSP00000507937.1:p.Ala472=
ENST00000684545.1:c.1416A>G	ENSP00000506733.1:p.Ala472=
ENST00000684624.1:n.793A>G
ENST00000684714.1:c.1416A>G	ENSP00000506861.1:p.Ala472=
ENST00000684731.1:n.877A>G
ENST00000375679.9:c.1416A>G MANE Select	ENSP00000364831.5:p.Ala472=
ENST00000375667.7:c.909A>G	ENSP00000364819.3:p.Ala303=
ENST00000375679.8:c.1416A>G	ENSP00000364831.4:p.Ala472=
ENST00000619181.4:c.1035A>G	ENSP00000483866.1:p.Ala345=
NM_000085.4:c.1416A>G	NP_000076.2:p.Ala472=
NM_001165945.2:c.909A>G	NP_001159417.2:p.Ala303=
XM_011540619.1:c.1257A>G	XP_011538921.1:p.Ala419=
XM_011540620.1:c.1416A>G	XP_011538922.1:p.Ala472=
XM_011540621.1:c.765A>G	XP_011538923.1:p.Ala255=
NM_000085.5:c.1416A>G MANE Select	NP_000076.2:p.Ala472=