Canonical Allele Identifier: CA258030
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17546
dbSNP Id: rs80356699

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143320744A>G , CM000669.2:g.143320744A>G GRCh38
NC_000007.13:g.143017837A>G , CM000669.1:g.143017837A>G GRCh37
NC_000007.12:g.142727959A>G NCBI36
NG_009815.1:g.9619A>G
NG_009815.2:g.9619A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.382A>G ENSP00000498052.2:p.Met128Val
ENST00000343257.7:c.382A>G MANE Select ENSP00000339867.2:p.Met128Val
ENST00000432192.6:c.150A>G
ENST00000650516.1:c.382A>G ENSP00000498052.1:p.Met128Val
ENST00000343257.6:c.382A>G ENSP00000339867.2:p.Met128Val
NM_000083.2:c.382A>G NP_000074.2:p.Met128Val
NR_046453.1:n.469A>G
XM_011515781.1:c.382A>G XP_011514083.1:p.Met128Val
XM_017011739.1:c.89A>G XP_016867228.1:p.Asp30Gly
XM_017011740.1:c.89A>G XP_016867229.1:p.Asp30Gly
NM_000083.3:c.382A>G MANE Select NP_000074.3:p.Met128Val
NR_046453.2:n.484A>G