Canonical Allele Identifier: CA416362183
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1324412137
gnomAD v2: 1-11907425-C-T
gnomAD v3: 1-11847368-C-T
gnomAD v4: 1-11847368-C-T
MyVariant Identifiers: chr1:g.11907425C>T (hg19) chr1:g.11847368C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847368C>T , CM000663.2:g.11847368C>T GRCh38
NC_000001.10:g.11907425C>T , CM000663.1:g.11907425C>T GRCh37
NC_000001.9:g.11830012C>T NCBI36
NG_012926.1:g.5416G>A , LRG_751:g.5416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-209C>T (CLCN6) ENSP00000496938.1:n.*1962-209C>T
ENST00000446542.5:n.782-66C>T (NPPA-AS1)
ENST00000376476.1:c.45G>A (NPPA) ENSP00000365659.1:p.Glu15=
ENST00000376480.7:c.195G>A (NPPA) MANE Select ENSP00000365663.3:p.Glu65=
ENST00000610706.1:c.195G>A (NPPA) ENSP00000483195.1:p.Glu65=
NM_006172.3:c.195G>A , LRG_751t1:c.195G>A (NPPA) NP_006163.1:p.Glu65=
NR_037806.1:n.1480-66C>T (NPPA-AS1)
NM_006172.4:c.195G>A (NPPA) MANE Select NP_006163.1:p.Glu65=
Search 100 bp 5'
Search 100 bp 3'