Canonical Allele Identifier: CA623149
Gene: CLCNKB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.16044572G>A
GRCh37 chr1:g.16371067G>A
Revel Score:
ENST00000375679 (MANE Select) 0.244
ENST00000331579 0.244
gnomAD v2:
1:16371067 G / A
gnomAD v3:
1:16044572 G / A
gnomAD v4:
chr1-16044572-G-A
Joint Max Group AF 0.00005832 (MID)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00003474 (EAS)
dbSNP:
2015352
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.80G>A ENSP00000507062.1:p.Arg27His
ENST00000682793.1:c.80G>A ENSP00000506910.1:p.Arg27His
ENST00000682838.1:c.80G>A ENSP00000507652.1:p.Arg27His
ENST00000683578.1:c.80G>A ENSP00000507430.1:p.Arg27His
ENST00000684324.1:c.80G>A ENSP00000507937.1:p.Arg27His
ENST00000684545.1:c.80G>A ENSP00000506733.1:p.Arg27His
ENST00000684714.1:c.80G>A ENSP00000506861.1:p.Arg27His
ENST00000375679.9:c.80G>A MANE Select ENSP00000364831.5:p.Arg27His
ENST00000375679.8:c.80G>A ENSP00000364831.4:p.Arg27His
ENST00000619181.4:c.80G>A ENSP00000483866.1:p.Arg27His
NM_000085.4:c.80G>A NP_000076.2:p.Arg27His
XM_011540619.1:c.-301G>A XP_011538921.1:n.-301G>A
XM_011540620.1:c.80G>A XP_011538922.1:p.Arg27His
NM_000085.5:c.80G>A MANE Select NP_000076.2:p.Arg27His
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