Canonical Allele Identifier: CA4537794
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280103
ClinVar RCV Id: RCV000307053 RCV000705425
dbSNP Id: rs755176513
ExAC: 7:143048918 G / GC
gnomAD v2: 7-143048918-G-GC
gnomAD v3: 7-143351825-G-GC
gnomAD v4: 7-143351825-G-GC
MyVariant Identifiers: chr7:g.143048922dupC (hg19) chr7:g.143048918_143048919insC (hg19) chr7:g.143351829dupC (hg38) chr7:g.143351825_143351826insC (hg38)
PubMed: PMID:18337100
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351829dup , CM000669.2:g.143351829dup GRCh38
NC_000007.13:g.143048922dup , CM000669.1:g.143048922dup GRCh37
NC_000007.12:g.142759044dup NCBI36
NG_009815.1:g.40704dup
NG_009815.2:g.40704dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2831dup ENSP00000498052.2:p.Gly945ArgfsTer?
ENST00000343257.7:c.2831dup MANE Select ENSP00000339867.2:p.Gly945ArgfsTer?
ENST00000343257.6:c.2831dup ENSP00000339867.2:p.Gly945ArgfsTer?
NM_000083.2:c.2831dup NP_000074.2:p.Gly945ArgfsTer?
NR_046453.1:n.2771dup
XM_011515781.1:c.2855dup XP_011514083.1:p.Gly953ArgfsTer?
XM_011515782.1:c.1577dup XP_011514084.1:p.Gly527ArgfsTer?
XM_011515782.2:c.1577dup XP_011514084.1:p.Gly527ArgfsTer?
XM_017011739.1:c.2405dup XP_016867228.1:p.Gly803ArgfsTer?
XM_017011740.1:c.2381dup XP_016867229.1:p.Gly795ArgfsTer?
NM_000083.3:c.2831dup MANE Select NP_000074.3:p.Gly945ArgfsTer?
NR_046453.2:n.2786dup
Search 100 bp 5'
Search 100 bp 3'