Canonical Allele Identifier: CA258016
Gene: CLCN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17535
dbSNP Id: rs121912801

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143339527G>T , CM000669.2:g.143339527G>T GRCh38
NC_000007.13:g.143036620G>T , CM000669.1:g.143036620G>T GRCh37
NC_000007.12:g.142746742G>T NCBI36
NG_009815.1:g.28402G>T

Transcript Alleles

HGVS Amino-acid change
NM_000083.2:c.1488G>T VV NP_000074.2:p.Arg496Ser
NR_046453.1:n.1428G>T
XM_011515781.1:c.1512G>T XP_011514083.1:p.Arg504Ser
XM_011515782.1:c.234G>T XP_011514084.1:p.Arg78Ser
XM_011515782.2:c.234G>T
XM_017011739.1:c.1062G>T XP_016867228.1:p.Arg354Ser
XM_017011740.1:c.1038G>T XP_016867229.1:p.Arg346Ser
ENST00000343257.6:c.1488G>T ENSP00000339867.2:p.Arg496Ser