Canonical Allele Identifier: CA4536919
Gene: CLCN1 HGNC NCBI
ClinVar RCV:
RCV000987988
RCV001519256
RCV001528988
RCV001579208
ClinVar Variation:
802378
dbSNP:
10282312
gnomAD v2:
7:143017807 G / T
gnomAD v3:
7:143320714 G / T
gnomAD v4:
chr7-143320714-G-T
Joint Max Group AF 0.99252937 (SAS)
Genomes Max Group AF 0.98749479 (AFR)
Exomes Max Group AF 0.99235883 (SAS)
MyVariant.info:
GRCh38 chr7:g.143320714G>T
GRCh37 chr7:g.143017807G>T
Revel Score:
ENST00000343257 (MANE Select) 0.293
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143320714G>T , CM000669.2:g.143320714G>T GRCh38
NC_000007.13:g.143017807G>T , CM000669.1:g.143017807G>T GRCh37
NC_000007.12:g.142727929G>T NCBI36
NG_009815.2:g.9589G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.352G>T ENSP00000498052.2:p.Gly118Trp
ENST00000343257.7:c.352G>T MANE Select ENSP00000339867.2:p.Gly118Trp
ENST00000432192.6:c.120G>T
ENST00000650516.1:c.352G>T ENSP00000498052.1:p.Gly118Trp
ENST00000343257.6:c.352G>T ENSP00000339867.2:p.Gly118Trp
XM_011515781.1:c.352G>T XP_011514083.1:p.Gly118Trp
XM_017011739.1:c.59G>T XP_016867228.1:p.Arg20Leu
XM_017011740.1:c.59G>T XP_016867229.1:p.Arg20Leu
NM_000083.3:c.352G>T MANE Select NP_000074.3:p.Gly118Trp
NR_046453.2:n.454G>T
Search 100 bp 5'
Search 100 bp 3'