Canonical Allele Identifier: CA834501760
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2944973
ClinVar RCV Id: RCV003808675
dbSNP Id: rs1444676715

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351586C>T , CM000669.2:g.143351586C>T GRCh38
NC_000007.13:g.143048679C>T , CM000669.1:g.143048679C>T GRCh37
NC_000007.12:g.142758801C>T NCBI36
NG_009815.1:g.40461C>T
NG_009815.2:g.40461C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2596-8C>T ENSP00000498052.2:n.2596-8C>T
ENST00000343257.7:c.2596-8C>T MANE Select ENSP00000339867.2:n.2596-8C>T
ENST00000432192.6:c.2420-8C>T
ENST00000343257.6:c.2596-8C>T ENSP00000339867.2:n.2596-8C>T
NM_000083.2:c.2596-8C>T NP_000074.2:n.2596-8C>T
NR_046453.1:n.2536-8C>T
XM_011515781.1:c.2620-8C>T XP_011514083.1:n.2620-8C>T
XM_011515782.1:c.1342-8C>T XP_011514084.1:n.1342-8C>T
XM_011515782.2:c.1342-8C>T XP_011514084.1:n.1342-8C>T
XM_017011739.1:c.2170-8C>T XP_016867228.1:n.2170-8C>T
XM_017011740.1:c.2146-8C>T XP_016867229.1:n.2146-8C>T
NM_000083.3:c.2596-8C>T MANE Select NP_000074.3:n.2596-8C>T
NR_046453.2:n.2551-8C>T