Canonical Allele Identifier: CA151255
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 126846
ClinVar RCV Id: RCV000114740 RCV001344090 RCV003155074
dbSNP Id: rs202102042
ExAC: 1:11907171 C / T
gnomAD v2: 1-11907171-C-T
gnomAD v3: 1-11847114-C-T
gnomAD v4: 1-11847114-C-T
MyVariant Identifiers: chr1:g.11907171C>T (hg19) chr1:g.11847114C>T (hg38)
PubMed: PMID:6225642 PMID:23275345
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847114C>T , CM000663.2:g.11847114C>T GRCh38
NC_000001.10:g.11907171C>T , CM000663.1:g.11907171C>T GRCh37
NC_000001.9:g.11829758C>T NCBI36
NG_012926.1:g.5670G>A , LRG_751:g.5670G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-463C>T (CLCN6) ENSP00000496938.1:n.*1962-463C>T
ENST00000446542.5:n.782-320C>T (NPPA-AS1)
ENST00000376476.1:c.299G>A (NPPA) ENSP00000365659.1:p.Arg100Gln
ENST00000376480.7:c.449G>A (NPPA) MANE Select ENSP00000365663.3:p.Arg150Gln
ENST00000610706.1:c.449G>A (NPPA) ENSP00000483195.1:p.Arg150Gln
NM_006172.3:c.449G>A , LRG_751t1:c.449G>A (NPPA) NP_006163.1:p.Arg150Gln
NR_037806.1:n.1480-320C>T (NPPA-AS1)
NM_006172.4:c.449G>A (NPPA) MANE Select NP_006163.1:p.Arg150Gln
Search 100 bp 5'
Search 100 bp 3'