Canonical Allele Identifier: CA595950
Gene: CLCN6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11816605G>A
GRCh37 chr1:g.11876662G>A
gnomAD v2:
1:11876662 G / A
gnomAD v3:
1:11816605 G / A
gnomAD v4:
chr1-11816605-G-A
Joint Max Group AF 0.05384679 (NFE)
Genomes Max Group AF 0.053452 (NFE)
Exomes Max Group AF 0.05379175 (NFE)
ClinVar Allele:
1523413
ClinVar RCV:
RCV002127269
ClinVar Variation:
1601467
dbSNP:
17376328
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11816605G>A , CM000663.2:g.11816605G>A GRCh38
NC_000001.10:g.11876662G>A , CM000663.1:g.11876662G>A GRCh37
NC_000001.9:g.11799249G>A NCBI36
NG_008766.1:g.15456G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346436.11:c.214-10G>A MANE Select ENSP00000234488.9:n.214-10G>A
ENST00000400892.3:c.214-10G>A ENSP00000496938.1:n.214-10G>A
ENST00000312413.10:c.148-10G>A ENSP00000308367.7:n.148-10G>A
ENST00000346436.10:c.214-10G>A ENSP00000234488.9:n.214-10G>A
ENST00000376490.7:n.214-10G>A
ENST00000376491.7:n.214-10G>A
ENST00000376492.3:n.214-10G>A
ENST00000376496.4:c.214-10G>A ENSP00000365679.3:n.214-10G>A
ENST00000376497.7:c.214-10G>A ENSP00000365680.3:n.214-10G>A
NM_001256959.1:c.148-10G>A NP_001243888.1:n.148-10G>A
NM_001286.3:c.214-10G>A NP_001277.1:n.214-10G>A
NR_046428.1:n.381-10G>A
NM_001286.4:c.214-10G>A NP_001277.1:n.214-10G>A
NM_001256959.2:c.148-10G>A NP_001243888.2:n.148-10G>A
NM_001286.5:c.214-10G>A MANE Select NP_001277.2:n.214-10G>A
NR_046428.2:n.286-10G>A
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