Canonical Allele Identifier: CA341551
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21047
dbSNP Id: rs80356687

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143324442C>T , CM000669.2:g.143324442C>T GRCh38
NC_000007.13:g.143021535C>T , CM000669.1:g.143021535C>T GRCh37
NC_000007.12:g.142731657C>T NCBI36
NG_009815.1:g.13317C>T
NG_009815.2:g.13317C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343257.7:c.803C>T MANE Select ENSP00000339867.2:p.Thr268Met
ENST00000432192.6:n.627C>T
ENST00000455478.6:n.391C>T ENSP00000400027.2:p.=
ENST00000650516.1:c.853+545C>T ENSP00000498052.1:p.=
ENST00000343257.6:c.803C>T ENSP00000339867.2:p.Thr268Met
ENST00000432192.5:n.317C>T
ENST00000455478.5:n.395C>T
ENST00000495612.1:n.154+2594C>T
NM_000083.2:c.803C>T NP_000074.2:p.Thr268Met
NR_046453.1:n.893C>T
XM_011515781.1:c.853+545C>T XP_011514083.1:p.=
XM_017011739.1:c.403+2594C>T XP_016867228.1:p.=
XM_017011740.1:c.403+2594C>T XP_016867229.1:p.=
NM_000083.3:c.803C>T MANE Select NP_000074.3:p.Thr268Met
NR_046453.2:n.908C>T