Canonical Allele Identifier: CA416256722
Gene: CLCNKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16382012A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055517A>T , CM000663.2:g.16055517A>T GRCh38
NC_000001.10:g.16382012A>T , CM000663.1:g.16382012A>T GRCh37
NC_000001.9:g.16254599A>T NCBI36
NG_013079.1:g.16766A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1839A>T ENSP00000507062.1:p.Gly613=
ENST00000682793.1:c.1839A>T ENSP00000506910.1:p.Gly613=
ENST00000682838.1:c.*1581A>T ENSP00000507652.1:n.*1581A>T
ENST00000683578.1:c.1839A>T ENSP00000507430.1:p.Gly613=
ENST00000683606.1:n.1445A>T
ENST00000683661.1:n.3374A>T
ENST00000684324.1:c.1839A>T ENSP00000507937.1:p.Gly613=
ENST00000684545.1:c.1839A>T ENSP00000506733.1:p.Gly613=
ENST00000684624.1:n.1216A>T
ENST00000684714.1:c.*59A>T ENSP00000506861.1:n.*59A>T
ENST00000684731.1:n.1166A>T
ENST00000375679.9:c.1839A>T MANE Select ENSP00000364831.5:p.Gly613=
ENST00000375667.7:c.1332A>T ENSP00000364819.3:p.Gly444=
ENST00000375679.8:c.1839A>T ENSP00000364831.4:p.Gly613=
ENST00000431772.1:c.306A>T ENSP00000389344.1:p.Gly102=
ENST00000619181.4:c.1294-1670A>T ENSP00000483866.1:n.1294-1670A>T
NM_000085.4:c.1839A>T NP_000076.2:p.Gly613=
NM_001165945.2:c.1332A>T NP_001159417.2:p.Gly444=
XM_011540619.1:c.1680A>T XP_011538921.1:p.Gly560=
XM_011540621.1:c.1188A>T XP_011538923.1:p.Gly396=
NM_000085.5:c.1839A>T MANE Select NP_000076.2:p.Gly613=