Canonical Allele Identifier: CA416256471
Gene: CLCNKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16381949C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055454C>A , CM000663.2:g.16055454C>A GRCh38
NC_000001.10:g.16381949C>A , CM000663.1:g.16381949C>A GRCh37
NC_000001.9:g.16254536C>A NCBI36
NG_013079.1:g.16703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1776C>A ENSP00000507062.1:p.Gly592=
ENST00000682793.1:c.1776C>A ENSP00000506910.1:p.Gly592=
ENST00000682838.1:c.*1518C>A ENSP00000507652.1:n.*1518C>A
ENST00000683578.1:c.1776C>A ENSP00000507430.1:p.Gly592=
ENST00000683606.1:n.1382C>A
ENST00000683661.1:n.3311C>A
ENST00000684324.1:c.1776C>A ENSP00000507937.1:p.Gly592=
ENST00000684545.1:c.1776C>A ENSP00000506733.1:p.Gly592=
ENST00000684624.1:n.1153C>A
ENST00000684714.1:c.1727C>A ENSP00000506861.1:p.Ala576Glu
ENST00000684731.1:n.1103C>A
ENST00000375679.9:c.1776C>A MANE Select ENSP00000364831.5:p.Gly592=
ENST00000375667.7:c.1269C>A ENSP00000364819.3:p.Gly423=
ENST00000375679.8:c.1776C>A ENSP00000364831.4:p.Gly592=
ENST00000431772.1:c.243C>A ENSP00000389344.1:p.Gly81=
ENST00000619181.4:c.1294-1733C>A ENSP00000483866.1:n.1294-1733C>A
NM_000085.4:c.1776C>A NP_000076.2:p.Gly592=
NM_001165945.2:c.1269C>A NP_001159417.2:p.Gly423=
XM_011540619.1:c.1617C>A XP_011538921.1:p.Gly539=
XM_011540621.1:c.1125C>A XP_011538923.1:p.Gly375=
NM_000085.5:c.1776C>A MANE Select NP_000076.2:p.Gly592=