Canonical Allele Identifier: CA341559
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21051
dbSNP Id: rs80356691

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143330847C>T , CM000669.2:g.143330847C>T GRCh38
NC_000007.13:g.143027940C>T , CM000669.1:g.143027940C>T GRCh37
NC_000007.12:g.142738062C>T NCBI36
NG_009815.1:g.19722C>T
NG_009815.2:g.19722C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.929C>T ENSP00000498052.2:p.Thr310Met
ENST00000343257.7:c.929C>T MANE Select ENSP00000339867.2:p.Thr310Met
ENST00000432192.6:c.753C>T
ENST00000455478.6:c.517C>T ENSP00000400027.2:n.517C>T
ENST00000650516.1:c.929C>T ENSP00000498052.1:p.Thr310Met
ENST00000343257.6:c.929C>T ENSP00000339867.2:p.Thr310Met
ENST00000432192.5:c.443C>T
ENST00000455478.5:c.521C>T
ENST00000495612.1:n.230C>T
NM_000083.2:c.929C>T NP_000074.2:p.Thr310Met
NR_046453.1:n.1019C>T
XM_011515781.1:c.929C>T XP_011514083.1:p.Thr310Met
XM_017011739.1:c.479C>T XP_016867228.1:p.Thr160Met
XM_017011740.1:c.479C>T XP_016867229.1:p.Thr160Met
NM_000083.3:c.929C>T MANE Select NP_000074.3:p.Thr310Met
NR_046453.2:n.1034C>T