Canonical Allele Identifier: CA338644914
Gene: CLCNKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16382002G>A (hg19) chr1:g.16055507G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055507G>A , CM000663.2:g.16055507G>A GRCh38
NC_000001.10:g.16382002G>A , CM000663.1:g.16382002G>A GRCh37
NC_000001.9:g.16254589G>A NCBI36
NG_013079.1:g.16756G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682338.1:c.1829G>A ENSP00000507062.1:p.Trp610Ter
ENST00000682793.1:c.1829G>A ENSP00000506910.1:p.Trp610Ter
ENST00000682838.1:c.*1571G>A ENSP00000507652.1:n.*1571G>A
ENST00000683578.1:c.1829G>A ENSP00000507430.1:p.Trp610Ter
ENST00000683606.1:n.1435G>A
ENST00000683661.1:n.3364G>A
ENST00000684324.1:c.1829G>A ENSP00000507937.1:p.Trp610Ter
ENST00000684545.1:c.1829G>A ENSP00000506733.1:p.Trp610Ter
ENST00000684624.1:n.1206G>A
ENST00000684714.1:c.*49G>A ENSP00000506861.1:n.*49G>A
ENST00000684731.1:n.1156G>A
ENST00000375679.9:c.1829G>A MANE Select ENSP00000364831.5:p.Trp610Ter
ENST00000375667.7:c.1322G>A ENSP00000364819.3:p.Trp441Ter
ENST00000375679.8:c.1829G>A ENSP00000364831.4:p.Trp610Ter
ENST00000431772.1:c.296G>A ENSP00000389344.1:p.Trp99Ter
ENST00000619181.4:c.1294-1680G>A ENSP00000483866.1:n.1294-1680G>A
NM_000085.4:c.1829G>A NP_000076.2:p.Trp610Ter
NM_001165945.2:c.1322G>A NP_001159417.2:p.Trp441Ter
XM_011540619.1:c.1670G>A XP_011538921.1:p.Trp557Ter
XM_011540621.1:c.1178G>A XP_011538923.1:p.Trp393Ter
NM_000085.5:c.1829G>A MANE Select NP_000076.2:p.Trp610Ter
Search 100 bp 5'
Search 100 bp 3'