Canonical Allele Identifier: CA4537021
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1008856
dbSNP Id: rs756755417

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321789G>A , CM000669.2:g.143321789G>A GRCh38
NC_000007.13:g.143018882G>A , CM000669.1:g.143018882G>A GRCh37
NC_000007.12:g.142729004G>A NCBI36
NG_009815.1:g.10664G>A
NG_009815.2:g.10664G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.637G>A ENSP00000498052.2:p.Val213Met
ENST00000343257.7:c.637G>A MANE Select ENSP00000339867.2:p.Val213Met
ENST00000432192.6:c.405G>A
ENST00000455478.6:c.91G>A ENSP00000400027.2:p.Val31Met
ENST00000650516.1:c.637G>A ENSP00000498052.1:p.Val213Met
ENST00000343257.6:c.637G>A ENSP00000339867.2:p.Val213Met
ENST00000432192.5:c.95G>A
ENST00000455478.5:c.95G>A
ENST00000495612.1:n.95G>A
NM_000083.2:c.637G>A NP_000074.2:p.Val213Met
NR_046453.1:n.724G>A
XM_011515781.1:c.637G>A XP_011514083.1:p.Val213Met
XM_017011739.1:c.344G>A XP_016867228.1:p.Cys115Tyr
XM_017011740.1:c.344G>A XP_016867229.1:p.Cys115Tyr
NM_000083.3:c.637G>A MANE Select NP_000074.3:p.Val213Met
NR_046453.2:n.739G>A