Canonical Allele Identifier: CA416249790
Gene: CLCNKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16378230G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051735G>A , CM000663.2:g.16051735G>A GRCh38
NC_000001.10:g.16378230G>A , CM000663.1:g.16378230G>A GRCh37
NC_000001.9:g.16250817G>A NCBI36
NG_013079.1:g.12984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1323G>A ENSP00000507062.1:p.Gly441=
ENST00000682793.1:c.1323G>A ENSP00000506910.1:p.Gly441=
ENST00000682838.1:c.*1065G>A ENSP00000507652.1:n.*1065G>A
ENST00000683578.1:c.1323G>A ENSP00000507430.1:p.Gly441=
ENST00000683606.1:n.938G>A
ENST00000683661.1:n.2858G>A
ENST00000684324.1:c.1323G>A ENSP00000507937.1:p.Gly441=
ENST00000684545.1:c.1323G>A ENSP00000506733.1:p.Gly441=
ENST00000684624.1:n.700G>A
ENST00000684714.1:c.1323G>A ENSP00000506861.1:p.Gly441=
ENST00000684731.1:n.784G>A
ENST00000375679.9:c.1323G>A MANE Select ENSP00000364831.5:p.Gly441=
ENST00000375667.7:c.816G>A ENSP00000364819.3:p.Gly272=
ENST00000375679.8:c.1323G>A ENSP00000364831.4:p.Gly441=
ENST00000619181.4:c.942G>A ENSP00000483866.1:p.Gly314=
NM_000085.4:c.1323G>A NP_000076.2:p.Gly441=
NM_001165945.2:c.816G>A NP_001159417.2:p.Gly272=
XM_011540619.1:c.1164G>A XP_011538921.1:p.Gly388=
XM_011540620.1:c.1323G>A XP_011538922.1:p.Gly441=
XM_011540621.1:c.672G>A XP_011538923.1:p.Gly224=
NM_000085.5:c.1323G>A MANE Select NP_000076.2:p.Gly441=