Canonical Allele Identifier: CA2643565663
Gene: CLCNKB HGNC NCBI

Linked Data

gnomAD v4: 1-16055587-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055587G>T , CM000663.2:g.16055587G>T GRCh38
NC_000001.10:g.16382082G>T , CM000663.1:g.16382082G>T GRCh37
NC_000001.9:g.16254669G>T NCBI36
NG_013079.1:g.16836G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1845+64G>T ENSP00000507062.1:n.1845+64G>T
ENST00000682793.1:c.1845+64G>T ENSP00000506910.1:n.1845+64G>T
ENST00000682838.1:c.*1587+64G>T ENSP00000507652.1:n.*1587+64G>T
ENST00000683578.1:c.1845+64G>T ENSP00000507430.1:n.1845+64G>T
ENST00000683606.1:n.1451+64G>T
ENST00000683661.1:n.3380+64G>T
ENST00000684324.1:c.1845+64G>T ENSP00000507937.1:n.1845+64G>T
ENST00000684545.1:c.1845+64G>T ENSP00000506733.1:n.1845+64G>T
ENST00000684624.1:n.1222+64G>T
ENST00000684714.1:c.*65+64G>T ENSP00000506861.1:n.*65+64G>T
ENST00000684731.1:n.1172+64G>T
ENST00000375679.9:c.1845+64G>T MANE Select ENSP00000364831.5:n.1845+64G>T
ENST00000375667.7:c.1338+64G>T ENSP00000364819.3:n.1338+64G>T
ENST00000375679.8:c.1845+64G>T ENSP00000364831.4:n.1845+64G>T
ENST00000431772.1:c.312+64G>T ENSP00000389344.1:n.312+64G>T
ENST00000619181.4:c.1294-1600G>T ENSP00000483866.1:n.1294-1600G>T
NM_000085.4:c.1845+64G>T NP_000076.2:n.1845+64G>T
NM_001165945.2:c.1338+64G>T NP_001159417.2:n.1338+64G>T
XM_011540619.1:c.1686+64G>T XP_011538921.1:n.1686+64G>T
XM_011540621.1:c.1194+64G>T XP_011538923.1:n.1194+64G>T
NM_000085.5:c.1845+64G>T MANE Select NP_000076.2:n.1845+64G>T