Canonical Allele Identifier: CA10413876
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 946618
ClinVar RCV Id: RCV001217517
dbSNP Id: rs782540790
gnomAD v2: X-49851396-C-T
gnomAD v3: X-50086739-C-T
gnomAD v4: X-50086739-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50086739C>T , CM000685.2:g.50086739C>T GRCh38
NC_000023.10:g.49851396C>T , CM000685.1:g.49851396C>T GRCh37
NC_000023.9:g.49738136C>T NCBI36
NG_007159.3:g.169124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376091.8:c.1426C>T MANE Select ENSP00000365259.3:p.Arg476Cys
ENST00000642383.1:c.676C>T ENSP00000496353.1:p.Arg226Cys
ENST00000642885.1:c.1216C>T ENSP00000496632.1:p.Arg406Cys
ENST00000643129.1:c.1713C>T
ENST00000646398.1:c.*601C>T ENSP00000495122.1:n.*601C>T
ENST00000307367.2:c.1216C>T ENSP00000304257.2:p.Arg406Cys
ENST00000376088.7:c.1426C>T ENSP00000365256.3:p.Arg476Cys
ENST00000376091.7:c.1426C>T ENSP00000365259.3:p.Arg476Cys
ENST00000376108.7:c.1216C>T ENSP00000365276.3:p.Arg406Cys
NM_000084.4:c.1216C>T NP_000075.1:p.Arg406Cys
NM_001127898.3:c.1426C>T NP_001121370.1:p.Arg476Cys
NM_001127899.3:c.1426C>T NP_001121371.1:p.Arg476Cys
NM_001282163.1:c.1276C>T NP_001269092.1:p.Arg426Cys
XM_011543888.1:c.1426C>T XP_011542190.1:p.Arg476Cys
XM_011543889.1:c.1216C>T XP_011542191.1:p.Arg406Cys
XM_017029257.1:c.1438C>T XP_016884746.1:p.Arg480Cys
XM_017029258.1:c.1438C>T XP_016884747.1:p.Arg480Cys
NM_001127898.4:c.1426C>T MANE Select NP_001121370.1:p.Arg476Cys
NM_000084.5:c.1216C>T NP_000075.1:p.Arg406Cys
NM_001127899.4:c.1426C>T NP_001121371.1:p.Arg476Cys
NM_001282163.2:c.1276C>T NP_001269092.1:p.Arg426Cys