Canonical Allele Identifier: CA597109
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
COSMIC:
COSM4986600 (not active)
MyVariant.info:
GRCh38 chr1:g.11847591C>T
GRCh37 chr1:g.11907648C>T
Revel Score:
ENST00000376480 (MANE Select) 0.064
gnomAD v2:
1:11907648 C / T
gnomAD v3:
1:11847591 C / T
gnomAD v4:
chr1-11847591-C-T
Joint Max Group AF 0.1011499 (EAS)
Genomes Max Group AF 0.10766627 (EAS)
Exomes Max Group AF 0.09949199 (EAS)
ClinVar Allele:
1153212
ClinVar RCV:
RCV001521904
RCV001536622
ClinVar Variation:
1169995
dbSNP:
5063
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847591C>T , CM000663.2:g.11847591C>T GRCh38
NC_000001.10:g.11907648C>T , CM000663.1:g.11907648C>T GRCh37
NC_000001.9:g.11830235C>T NCBI36
NG_012926.1:g.5193G>A , LRG_751:g.5193G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1976C>T (CLCN6) ENSP00000496938.1:n.*1976C>T
ENST00000446542.5:n.939C>T (NPPA-AS1)
ENST00000376476.1:c.-27-152G>A (NPPA) ENSP00000365659.1:n.-27-152G>A
ENST00000376480.7:c.94G>A (NPPA) MANE Select ENSP00000365663.3:p.Val32Met
ENST00000610706.1:c.94G>A (NPPA) ENSP00000483195.1:p.Val32Met
NM_006172.3:c.94G>A , LRG_751t1:c.94G>A (NPPA) NP_006163.1:p.Val32Met
NR_037806.1:n.1637C>T (NPPA-AS1)
NM_006172.4:c.94G>A (NPPA) MANE Select NP_006163.1:p.Val32Met
Search 100 bp 5'
Search 100 bp 3'