Canonical Allele Identifier: CA369680541
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 648845
ClinVar RCV Id: RCV000803654
dbSNP Id: rs1586483060

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143319798A>T , CM000669.2:g.143319798A>T GRCh38
NC_000007.13:g.143016891A>T , CM000669.1:g.143016891A>T GRCh37
NC_000007.12:g.142727013A>T NCBI36
NG_009815.1:g.8673A>T
NG_009815.2:g.8673A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.224A>T ENSP00000498052.2:p.Asp75Val
ENST00000343257.7:c.224A>T MANE Select ENSP00000339867.2:p.Asp75Val
ENST00000650516.1:c.224A>T ENSP00000498052.1:p.Asp75Val
ENST00000343257.6:c.224A>T ENSP00000339867.2:p.Asp75Val
NM_000083.2:c.224A>T NP_000074.2:p.Asp75Val
NR_046453.1:n.311A>T
XM_011515781.1:c.224A>T XP_011514083.1:p.Asp75Val
XM_017011739.1:c.-70A>T XP_016867228.1:n.-70A>T
XM_017011740.1:c.-70A>T XP_016867229.1:n.-70A>T
NM_000083.3:c.224A>T MANE Select NP_000074.3:p.Asp75Val
NR_046453.2:n.326A>T