Canonical Allele Identifier: CA258022
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17541
dbSNP Id: rs121912805

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143330789G>A , CM000669.2:g.143330789G>A GRCh38
NC_000007.13:g.143027882G>A , CM000669.1:g.143027882G>A GRCh37
NC_000007.12:g.142738004G>A NCBI36
NG_009815.1:g.19664G>A
NG_009815.2:g.19664G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.871G>A ENSP00000498052.2:p.Glu291Lys
ENST00000343257.7:c.871G>A MANE Select ENSP00000339867.2:p.Glu291Lys
ENST00000432192.6:c.695G>A
ENST00000455478.6:c.459G>A ENSP00000400027.2:n.459G>A
ENST00000650516.1:c.871G>A ENSP00000498052.1:p.Glu291Lys
ENST00000343257.6:c.871G>A ENSP00000339867.2:p.Glu291Lys
ENST00000432192.5:c.385G>A
ENST00000455478.5:c.463G>A
ENST00000495612.1:n.172G>A
NM_000083.2:c.871G>A NP_000074.2:p.Glu291Lys
NR_046453.1:n.961G>A
XM_011515781.1:c.871G>A XP_011514083.1:p.Glu291Lys
XM_017011739.1:c.421G>A XP_016867228.1:p.Glu141Lys
XM_017011740.1:c.421G>A XP_016867229.1:p.Glu141Lys
NM_000083.3:c.871G>A MANE Select NP_000074.3:p.Glu291Lys
NR_046453.2:n.976G>A