Canonical Allele Identifier: CA416250971

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16378709A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052214A>T , CM000663.2:g.16052214A>T	GRCh38
NC_000001.10:g.16378709A>T , CM000663.1:g.16378709A>T	GRCh37
NC_000001.9:g.16251296A>T	NCBI36
NG_013079.1:g.13463A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1425A>T	ENSP00000507062.1:p.Ser475=
ENST00000682793.1:c.1425A>T	ENSP00000506910.1:p.Ser475=
ENST00000682838.1:c.*1167A>T	ENSP00000507652.1:n.*1167A>T
ENST00000683578.1:c.1425A>T	ENSP00000507430.1:p.Ser475=
ENST00000683606.1:n.1031A>T
ENST00000683661.1:n.2960A>T
ENST00000684324.1:c.1425A>T	ENSP00000507937.1:p.Ser475=
ENST00000684545.1:c.1425A>T	ENSP00000506733.1:p.Ser475=
ENST00000684624.1:n.802A>T
ENST00000684714.1:c.1425A>T	ENSP00000506861.1:p.Ser475=
ENST00000684731.1:n.886A>T
ENST00000375679.9:c.1425A>T MANE Select	ENSP00000364831.5:p.Ser475=
ENST00000375667.7:c.918A>T	ENSP00000364819.3:p.Ser306=
ENST00000375679.8:c.1425A>T	ENSP00000364831.4:p.Ser475=
ENST00000619181.4:c.1044A>T	ENSP00000483866.1:p.Ser348=
NM_000085.4:c.1425A>T	NP_000076.2:p.Ser475=
NM_001165945.2:c.918A>T	NP_001159417.2:p.Ser306=
XM_011540619.1:c.1266A>T	XP_011538921.1:p.Ser422=
XM_011540620.1:c.1425A>T	XP_011538922.1:p.Ser475=
XM_011540621.1:c.774A>T	XP_011538923.1:p.Ser258=
NM_000085.5:c.1425A>T MANE Select	NP_000076.2:p.Ser475=