Canonical Allele Identifier: CA258020
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17539
dbSNP Id: rs80356690

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143330788C>G , CM000669.2:g.143330788C>G GRCh38
NC_000007.13:g.143027881C>G , CM000669.1:g.143027881C>G GRCh37
NC_000007.12:g.142738003C>G NCBI36
NG_009815.1:g.19663C>G
NG_009815.2:g.19663C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.870C>G ENSP00000498052.2:p.Ile290Met
ENST00000343257.7:c.870C>G MANE Select ENSP00000339867.2:p.Ile290Met
ENST00000432192.6:c.694C>G
ENST00000455478.6:c.458C>G ENSP00000400027.2:n.458C>G
ENST00000650516.1:c.870C>G ENSP00000498052.1:p.Ile290Met
ENST00000343257.6:c.870C>G ENSP00000339867.2:p.Ile290Met
ENST00000432192.5:c.384C>G
ENST00000455478.5:c.462C>G
ENST00000495612.1:n.171C>G
NM_000083.2:c.870C>G NP_000074.2:p.Ile290Met
NR_046453.1:n.960C>G
XM_011515781.1:c.870C>G XP_011514083.1:p.Ile290Met
XM_017011739.1:c.420C>G XP_016867228.1:p.Ile140Met
XM_017011740.1:c.420C>G XP_016867229.1:p.Ile140Met
NM_000083.3:c.870C>G MANE Select NP_000074.3:p.Ile290Met
NR_046453.2:n.975C>G