Canonical Allele Identifier: CA4537035
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000597
dbSNP Id: rs761601545

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321837G>A , CM000669.2:g.143321837G>A GRCh38
NC_000007.13:g.143018930G>A , CM000669.1:g.143018930G>A GRCh37
NC_000007.12:g.142729052G>A NCBI36
NG_009815.1:g.10712G>A
NG_009815.2:g.10712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.685G>A ENSP00000498052.2:p.Val229Met
ENST00000343257.7:c.685G>A MANE Select ENSP00000339867.2:p.Val229Met
ENST00000432192.6:c.453G>A
ENST00000455478.6:c.139G>A ENSP00000400027.2:p.Val47Met
ENST00000650516.1:c.685G>A ENSP00000498052.1:p.Val229Met
ENST00000343257.6:c.685G>A ENSP00000339867.2:p.Val229Met
ENST00000432192.5:c.143G>A
ENST00000455478.5:c.143G>A
ENST00000495612.1:n.143G>A
NM_000083.2:c.685G>A NP_000074.2:p.Val229Met
NR_046453.1:n.772G>A
XM_011515781.1:c.685G>A XP_011514083.1:p.Val229Met
XM_017011739.1:c.392G>A XP_016867228.1:p.Arg131His
XM_017011740.1:c.392G>A XP_016867229.1:p.Arg131His
NM_000083.3:c.685G>A MANE Select NP_000074.3:p.Val229Met
NR_046453.2:n.787G>A