Canonical Allele Identifier: CA2532372524
Gene: CLCNKB HGNC NCBI

Linked Data

gnomAD v4: 1-16048743-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16048743A>T , CM000663.2:g.16048743A>T GRCh38
NC_000001.10:g.16375238A>T , CM000663.1:g.16375238A>T GRCh37
NC_000001.9:g.16247825A>T NCBI36
NG_013079.1:g.9992A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.655+161A>T ENSP00000507062.1:n.655+161A>T
ENST00000682793.1:c.655+161A>T ENSP00000506910.1:n.655+161A>T
ENST00000682838.1:c.*313+161A>T ENSP00000507652.1:n.*313+161A>T
ENST00000683578.1:c.655+161A>T ENSP00000507430.1:n.655+161A>T
ENST00000683661.1:n.2190+161A>T
ENST00000684324.1:c.655+161A>T ENSP00000507937.1:n.655+161A>T
ENST00000684545.1:c.655+161A>T ENSP00000506733.1:n.655+161A>T
ENST00000684714.1:c.655+161A>T ENSP00000506861.1:n.655+161A>T
ENST00000684731.1:n.116+161A>T
ENST00000375679.9:c.655+161A>T MANE Select ENSP00000364831.5:n.655+161A>T
ENST00000375679.8:c.655+161A>T ENSP00000364831.4:n.655+161A>T
ENST00000619181.4:c.587+229A>T ENSP00000483866.1:n.587+229A>T
NM_000085.4:c.655+161A>T NP_000076.2:n.655+161A>T
XM_011540619.1:c.496+161A>T XP_011538921.1:n.496+161A>T
XM_011540620.1:c.655+161A>T XP_011538922.1:n.655+161A>T
XM_011540621.1:c.-285A>T XP_011538923.1:n.-285A>T
NM_000085.5:c.655+161A>T MANE Select NP_000076.2:n.655+161A>T