Canonical Allele Identifier: CA458542306
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2934027
ClinVar RCV Id: RCV003795777
dbSNP Id: rs759060826
MyVariant Identifiers: chr7:g.143048713C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351620C>G , CM000669.2:g.143351620C>G GRCh38
NC_000007.13:g.143048713C>G , CM000669.1:g.143048713C>G GRCh37
NC_000007.12:g.142758835C>G NCBI36
NG_009815.1:g.40495C>G
NG_009815.2:g.40495C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2622C>G ENSP00000498052.2:p.Thr874=
ENST00000343257.7:c.2622C>G MANE Select ENSP00000339867.2:p.Thr874=
ENST00000432192.6:c.2446C>G
ENST00000343257.6:c.2622C>G ENSP00000339867.2:p.Thr874=
NM_000083.2:c.2622C>G NP_000074.2:p.Thr874=
NR_046453.1:n.2562C>G
XM_011515781.1:c.2646C>G XP_011514083.1:p.Thr882=
XM_011515782.1:c.1368C>G XP_011514084.1:p.Thr456=
XM_011515782.2:c.1368C>G XP_011514084.1:p.Thr456=
XM_017011739.1:c.2196C>G XP_016867228.1:p.Thr732=
XM_017011740.1:c.2172C>G XP_016867229.1:p.Thr724=
NM_000083.3:c.2622C>G MANE Select NP_000074.3:p.Thr874=
NR_046453.2:n.2577C>G