Canonical Allele Identifier: CA2643565686
Gene: CLCNKB HGNC NCBI

Linked Data

gnomAD v4: 1-16055599-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055599T>C , CM000663.2:g.16055599T>C GRCh38
NC_000001.10:g.16382094T>C , CM000663.1:g.16382094T>C GRCh37
NC_000001.9:g.16254681T>C NCBI36
NG_013079.1:g.16848T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1846-76T>C ENSP00000507062.1:n.1846-76T>C
ENST00000682793.1:c.1846-76T>C ENSP00000506910.1:n.1846-76T>C
ENST00000682838.1:c.*1587+76T>C ENSP00000507652.1:n.*1587+76T>C
ENST00000683578.1:c.1845+76T>C ENSP00000507430.1:n.1845+76T>C
ENST00000683606.1:n.1451+76T>C
ENST00000683661.1:n.3381-76T>C
ENST00000684324.1:c.1846-76T>C ENSP00000507937.1:n.1846-76T>C
ENST00000684545.1:c.1846-76T>C ENSP00000506733.1:n.1846-76T>C
ENST00000684624.1:n.1223-76T>C
ENST00000684714.1:c.*66-76T>C ENSP00000506861.1:n.*66-76T>C
ENST00000684731.1:n.1173-76T>C
ENST00000375679.9:c.1846-76T>C MANE Select ENSP00000364831.5:n.1846-76T>C
ENST00000375667.7:c.1338+76T>C ENSP00000364819.3:n.1338+76T>C
ENST00000375679.8:c.1846-76T>C ENSP00000364831.4:n.1846-76T>C
ENST00000431772.1:c.312+76T>C ENSP00000389344.1:n.312+76T>C
ENST00000619181.4:c.1294-1588T>C ENSP00000483866.1:n.1294-1588T>C
NM_000085.4:c.1846-76T>C NP_000076.2:n.1846-76T>C
NM_001165945.2:c.1338+76T>C NP_001159417.2:n.1338+76T>C
XM_011540619.1:c.1687-76T>C XP_011538921.1:n.1687-76T>C
XM_011540621.1:c.1195-76T>C XP_011538923.1:n.1195-76T>C
NM_000085.5:c.1846-76T>C MANE Select NP_000076.2:n.1846-76T>C