Canonical Allele Identifier: CA341561
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21052
dbSNP Id: rs80356692

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143330855G>A , CM000669.2:g.143330855G>A GRCh38
NC_000007.13:g.143027948G>A , CM000669.1:g.143027948G>A GRCh37
NC_000007.12:g.142738070G>A NCBI36
NG_009815.1:g.19730G>A
NG_009815.2:g.19730G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.937G>A ENSP00000498052.2:p.Ala313Thr
ENST00000343257.7:c.937G>A MANE Select ENSP00000339867.2:p.Ala313Thr
ENST00000432192.6:c.761G>A
ENST00000455478.6:c.525G>A ENSP00000400027.2:n.525G>A
ENST00000650516.1:c.937G>A ENSP00000498052.1:p.Ala313Thr
ENST00000343257.6:c.937G>A ENSP00000339867.2:p.Ala313Thr
ENST00000432192.5:c.451G>A
ENST00000455478.5:c.529G>A
ENST00000495612.1:n.238G>A
NM_000083.2:c.937G>A NP_000074.2:p.Ala313Thr
NR_046453.1:n.1027G>A
XM_011515781.1:c.937G>A XP_011514083.1:p.Ala313Thr
XM_017011739.1:c.487G>A XP_016867228.1:p.Ala163Thr
XM_017011740.1:c.487G>A XP_016867229.1:p.Ala163Thr
NM_000083.3:c.937G>A MANE Select NP_000074.3:p.Ala313Thr
NR_046453.2:n.1042G>A