Canonical Allele Identifier: CA4536976
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 946402
dbSNP Id: rs574259784

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321458C>A , CM000669.2:g.143321458C>A GRCh38
NC_000007.13:g.143018551C>A , CM000669.1:g.143018551C>A GRCh37
NC_000007.12:g.142728673C>A NCBI36
NG_009815.1:g.10333C>A
NG_009815.2:g.10333C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.527C>A ENSP00000498052.2:p.Ala176Asp
ENST00000343257.7:c.527C>A MANE Select ENSP00000339867.2:p.Ala176Asp
ENST00000432192.6:c.295C>A
ENST00000650516.1:c.527C>A ENSP00000498052.1:p.Ala176Asp
ENST00000343257.6:c.527C>A ENSP00000339867.2:p.Ala176Asp
NM_000083.2:c.527C>A NP_000074.2:p.Ala176Asp
NR_046453.1:n.614C>A
XM_011515781.1:c.527C>A XP_011514083.1:p.Ala176Asp
XM_017011739.1:c.234C>A XP_016867228.1:p.Arg78=
XM_017011740.1:c.234C>A XP_016867229.1:p.Arg78=
NM_000083.3:c.527C>A MANE Select NP_000074.3:p.Ala176Asp
NR_046453.2:n.629C>A