Canonical Allele Identifier: CA623150
Gene: CLCNKB HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16044572G>C , CM000663.2:g.16044572G>C GRCh38
NC_000001.10:g.16371067G>C , CM000663.1:g.16371067G>C GRCh37
NC_000001.9:g.16243654G>C NCBI36
NG_013079.1:g.5821G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.80G>C ENSP00000507062.1:p.Arg27Pro
ENST00000682793.1:c.80G>C ENSP00000506910.1:p.Arg27Pro
ENST00000682838.1:c.80G>C ENSP00000507652.1:p.Arg27Pro
ENST00000683578.1:c.80G>C ENSP00000507430.1:p.Arg27Pro
ENST00000684324.1:c.80G>C ENSP00000507937.1:p.Arg27Pro
ENST00000684545.1:c.80G>C ENSP00000506733.1:p.Arg27Pro
ENST00000684714.1:c.80G>C ENSP00000506861.1:p.Arg27Pro
ENST00000375679.9:c.80G>C MANE Select ENSP00000364831.5:p.Arg27Pro
ENST00000375679.8:c.80G>C ENSP00000364831.4:p.Arg27Pro
ENST00000619181.4:c.80G>C ENSP00000483866.1:p.Arg27Pro
NM_000085.4:c.80G>C NP_000076.2:p.Arg27Pro
XM_011540619.1:c.-301G>C XP_011538921.1:n.-301G>C
XM_011540620.1:c.80G>C XP_011538922.1:p.Arg27Pro
NM_000085.5:c.80G>C MANE Select NP_000076.2:p.Arg27Pro