Canonical Allele Identifier: CA341547
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21045
dbSNP Id: rs80356686

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321729G>A , CM000669.2:g.143321729G>A GRCh38
NC_000007.13:g.143018822G>A , CM000669.1:g.143018822G>A GRCh37
NC_000007.12:g.142728944G>A NCBI36
NG_009815.1:g.10604G>A
NG_009815.2:g.10604G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.577G>A ENSP00000498052.2:p.Glu193Lys
ENST00000343257.7:c.577G>A MANE Select ENSP00000339867.2:p.Glu193Lys
ENST00000432192.6:c.345G>A
ENST00000455478.6:c.31G>A ENSP00000400027.2:p.Glu11Lys
ENST00000650516.1:c.577G>A ENSP00000498052.1:p.Glu193Lys
ENST00000343257.6:c.577G>A ENSP00000339867.2:p.Glu193Lys
ENST00000432192.5:c.35G>A
ENST00000455478.5:c.35G>A
ENST00000495612.1:n.35G>A
NM_000083.2:c.577G>A NP_000074.2:p.Glu193Lys
NR_046453.1:n.664G>A
XM_011515781.1:c.577G>A XP_011514083.1:p.Glu193Lys
XM_017011739.1:c.284G>A XP_016867228.1:p.Arg95Gln
XM_017011740.1:c.284G>A XP_016867229.1:p.Arg95Gln
NM_000083.3:c.577G>A MANE Select NP_000074.3:p.Glu193Lys
NR_046453.2:n.679G>A