Canonical Allele Identifier: CA597035
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs765848358
ExAC: 1:11907324 C / T
gnomAD v2: 1-11907324-C-T
gnomAD v3: 1-11847267-C-T
gnomAD v4: 1-11847267-C-T
COSMIC: COSM4021210
MyVariant Identifiers: chr1:g.11907324C>T (hg19) chr1:g.11847267C>T (hg38)
PubMed: PMID:28263302
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847267C>T , CM000663.2:g.11847267C>T GRCh38
NC_000001.10:g.11907324C>T , CM000663.1:g.11907324C>T GRCh37
NC_000001.9:g.11829911C>T NCBI36
NG_012926.1:g.5517G>A , LRG_751:g.5517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-310C>T (CLCN6) ENSP00000496938.1:n.*1962-310C>T
ENST00000446542.5:n.782-167C>T (NPPA-AS1)
ENST00000376476.1:c.146G>A (NPPA) ENSP00000365659.1:p.Arg49Gln
ENST00000376480.7:c.296G>A (NPPA) MANE Select ENSP00000365663.3:p.Arg99Gln
ENST00000610706.1:c.296G>A (NPPA) ENSP00000483195.1:p.Arg99Gln
NM_006172.3:c.296G>A , LRG_751t1:c.296G>A (NPPA) NP_006163.1:p.Arg99Gln
NR_037806.1:n.1480-167C>T (NPPA-AS1)
NM_006172.4:c.296G>A (NPPA) MANE Select NP_006163.1:p.Arg99Gln
Search 100 bp 5'
Search 100 bp 3'