Canonical Allele Identifier: CA338451191
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1645076343
gnomAD v4: 1-11847361-C-T
MyVariant Identifiers: chr1:g.11907418C>T (hg19) chr1:g.11847361C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847361C>T , CM000663.2:g.11847361C>T GRCh38
NC_000001.10:g.11907418C>T , CM000663.1:g.11907418C>T GRCh37
NC_000001.9:g.11830005C>T NCBI36
NG_012926.1:g.5423G>A , LRG_751:g.5423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-216C>T (CLCN6) ENSP00000496938.1:n.*1962-216C>T
ENST00000446542.5:n.782-73C>T (NPPA-AS1)
ENST00000376476.1:c.52G>A (NPPA) ENSP00000365659.1:p.Glu18Lys
ENST00000376480.7:c.202G>A (NPPA) MANE Select ENSP00000365663.3:p.Glu68Lys
ENST00000610706.1:c.202G>A (NPPA) ENSP00000483195.1:p.Glu68Lys
NM_006172.3:c.202G>A , LRG_751t1:c.202G>A (NPPA) NP_006163.1:p.Glu68Lys
NR_037806.1:n.1480-73C>T (NPPA-AS1)
NM_006172.4:c.202G>A (NPPA) MANE Select NP_006163.1:p.Glu68Lys
Search 100 bp 5'
Search 100 bp 3'