Canonical Allele Identifier: CA10575434
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143330826G>A
GRCh37 chr7:g.143027919G>A
gnomAD v3:
7:143330826 G / A
gnomAD v4:
chr7-143330826-G-A
Joint Max Group AF 0.00000878 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV000516826
RCV001386290
ClinVar Variation:
447075
dbSNP:
1229066957
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143330826G>A , CM000669.2:g.143330826G>A GRCh38
NC_000007.13:g.143027919G>A , CM000669.1:g.143027919G>A GRCh37
NC_000007.12:g.142738041G>A NCBI36
NG_009815.1:g.19701G>A
NG_009815.2:g.19701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.908G>A ENSP00000498052.2:p.Trp303Ter
ENST00000343257.7:c.908G>A MANE Select ENSP00000339867.2:p.Trp303Ter
ENST00000432192.6:c.732G>A
ENST00000455478.6:c.496G>A ENSP00000400027.2:n.496G>A
ENST00000650516.1:c.908G>A ENSP00000498052.1:p.Trp303Ter
ENST00000343257.6:c.908G>A ENSP00000339867.2:p.Trp303Ter
ENST00000432192.5:c.422G>A
ENST00000455478.5:c.500G>A
ENST00000495612.1:n.209G>A
NM_000083.2:c.908G>A NP_000074.2:p.Trp303Ter
NR_046453.1:n.998G>A
XM_011515781.1:c.908G>A XP_011514083.1:p.Trp303Ter
XM_017011739.1:c.458G>A XP_016867228.1:p.Trp153Ter
XM_017011740.1:c.458G>A XP_016867229.1:p.Trp153Ter
NM_000083.3:c.908G>A MANE Select NP_000074.3:p.Trp303Ter
NR_046453.2:n.1013G>A
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