Canonical Allele Identifier: CA341553
Gene: CLCN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21048
ClinVar RCV Id: RCV000020115
dbSNP Id: rs80356688

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143324486C>T , CM000669.2:g.143324486C>T GRCh38
NC_000007.13:g.143021579C>T , CM000669.1:g.143021579C>T GRCh37
NC_000007.12:g.142731701C>T NCBI36
NG_009815.1:g.13361C>T

Transcript Alleles

HGVS Amino-acid change
NM_000083.2:c.847C>T VV NP_000074.2:p.Leu283Phe
NR_046453.1:n.937C>T
XM_011515781.1:c.853+589C>T XP_011514083.1:p.=
XM_017011739.1:c.403+2638C>T XP_016867228.1:p.=
XM_017011740.1:c.403+2638C>T XP_016867229.1:p.=
ENST00000343257.6:c.847C>T ENSP00000339867.2:p.Leu283Phe
ENST00000432192.5:n.361C>T
ENST00000455478.5:n.439C>T
ENST00000495612.1:n.154+2638C>T