Canonical Allele Identifier: CA623870
Gene: CLCNKB HGNC NCBI

Linked Data

ClinVar Variation Id: 447091
dbSNP Id: rs115910575

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16052192T>C , CM000663.2:g.16052192T>C GRCh38
NC_000001.10:g.16378687T>C , CM000663.1:g.16378687T>C GRCh37
NC_000001.9:g.16251274T>C NCBI36
NG_013079.1:g.13441T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375679.9:c.1409-6T>C MANE Select ENSP00000364831.5:p.=
ENST00000375667.7:c.902-6T>C ENSP00000364819.3:p.=
ENST00000375679.8:c.1409-6T>C ENSP00000364831.4:p.=
ENST00000619181.4:c.1028-6T>C ENSP00000483866.1:p.=
NM_000085.4:c.1409-6T>C NP_000076.2:p.=
NM_001165945.2:c.902-6T>C NP_001159417.2:p.=
XM_011540619.1:c.1250-6T>C XP_011538921.1:p.=
XM_011540620.1:c.1409-6T>C XP_011538922.1:p.=
XM_011540621.1:c.758-6T>C XP_011538923.1:p.=
NM_000085.5:c.1409-6T>C MANE Select NP_000076.2:p.=