Canonical Allele Identifier: CA4536967
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 646263
ClinVar RCV Id: RCV000800510
dbSNP Id: rs771532474

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321411G>C , CM000669.2:g.143321411G>C GRCh38
NC_000007.13:g.143018504G>C , CM000669.1:g.143018504G>C GRCh37
NC_000007.12:g.142728626G>C NCBI36
NG_009815.1:g.10286G>C
NG_009815.2:g.10286G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.480G>C ENSP00000498052.2:p.Gln160His
ENST00000343257.7:c.480G>C MANE Select ENSP00000339867.2:p.Gln160His
ENST00000432192.6:c.248G>C
ENST00000650516.1:c.480G>C ENSP00000498052.1:p.Gln160His
ENST00000343257.6:c.480G>C ENSP00000339867.2:p.Gln160His
NM_000083.2:c.480G>C NP_000074.2:p.Gln160His
NR_046453.1:n.567G>C
XM_011515781.1:c.480G>C XP_011514083.1:p.Gln160His
XM_017011739.1:c.187G>C XP_016867228.1:p.Val63Leu
XM_017011740.1:c.187G>C XP_016867229.1:p.Val63Leu
NM_000083.3:c.480G>C MANE Select NP_000074.3:p.Gln160His
NR_046453.2:n.582G>C