Canonical Allele Identifier: CA121684
Gene: CLCN5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11803
ClinVar RCV Id: RCV000012571
dbSNP Id: rs151340627

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50086551G>A , CM000685.2:g.50086551G>A GRCh38
NC_000023.10:g.49851208G>A , CM000685.1:g.49851208G>A GRCh37
NC_000023.9:g.49737948G>A NCBI36
NG_007159.3:g.168936G>A

Transcript Alleles

HGVS Amino-acid change
NM_000084.4:c.1028G>A VV NP_000075.1:p.Trp343Ter
NM_001127898.3:c.1238G>A VV NP_001121370.1:p.Trp413Ter
NM_001127899.3:c.1238G>A VV NP_001121371.1:p.Trp413Ter
NM_001282163.1:c.1088G>A VV NP_001269092.1:p.Trp363Ter
XM_011543888.1:c.1238G>A XP_011542190.1:p.Trp413Ter
XM_011543889.1:c.1028G>A XP_011542191.1:p.Trp343Ter
XM_017029257.1:c.1250G>A XP_016884746.1:p.Trp417Ter
XM_017029258.1:c.1250G>A XP_016884747.1:p.Trp417Ter
NM_001127898.4:c.1238G>A VV MANE Preferred NP_001121370.1:p.Trp413Ter
ENST00000307367.2:c.1028G>A ENSP00000304257.2:p.Trp343Ter
ENST00000376088.7:c.1238G>A ENSP00000365256.3:p.Trp413Ter
ENST00000376091.7:c.1238G>A ENSP00000365259.3:p.Trp413Ter
ENST00000376108.7:c.1028G>A ENSP00000365276.3:p.Trp343Ter