Canonical Allele Identifier: CA4537306
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447048
ClinVar RCV Id: RCV000516577 RCV000691433 RCV001193451
dbSNP Id: rs763633152
ExAC: 7:143029822 G / GC
gnomAD v2: 7-143029822-G-GC
gnomAD v3: 7-143332729-G-GC
gnomAD v4: 7-143332729-G-GC
MyVariant Identifiers: chr7:g.143029826dup (hg19) chr7:g.143029822_143029823insC (hg19) chr7:g.143332733dup (hg38) chr7:g.143332729_143332730insC (hg38)
PubMed: PMID:8533761
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332733dup , CM000669.2:g.143332733dup GRCh38
NC_000007.13:g.143029826dup , CM000669.1:g.143029826dup GRCh37
NC_000007.12:g.142739948dup NCBI36
NG_009815.1:g.21608dup
NG_009815.2:g.21608dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1261dup ENSP00000498052.2:p.Arg421ProfsTer9
ENST00000343257.7:c.1261dup MANE Select ENSP00000339867.2:p.Arg421ProfsTer9
ENST00000432192.6:c.1085dup
ENST00000343257.6:c.1261dup ENSP00000339867.2:p.Arg421ProfsTer9
NM_000083.2:c.1261dup NP_000074.2:p.Arg421ProfsTer9
NR_046453.1:n.1341+230dup
XM_011515781.1:c.1285dup XP_011514083.1:p.Arg429ProfsTer9
XM_011515782.1:c.7dup XP_011514084.1:p.Arg3ProfsTer9
XM_011515782.2:c.7dup XP_011514084.1:p.Arg3ProfsTer9
XM_017011739.1:c.835dup XP_016867228.1:p.Arg279ProfsTer9
XM_017011740.1:c.811dup XP_016867229.1:p.Arg271ProfsTer9
NM_000083.3:c.1261dup MANE Select NP_000074.3:p.Arg421ProfsTer9
NR_046453.2:n.1356+230dup
Search 100 bp 5'
Search 100 bp 3'