Canonical Allele Identifier: CA416363079
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2775607
ClinVar RCV Id: RCV003631335
gnomAD v4: 1-11847658-C-T
MyVariant Identifiers: chr1:g.11907715C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847658C>T , CM000663.2:g.11847658C>T GRCh38
NC_000001.10:g.11907715C>T , CM000663.1:g.11907715C>T GRCh37
NC_000001.9:g.11830302C>T NCBI36
NG_012926.1:g.5126G>A , LRG_751:g.5126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2043C>T (CLCN6) ENSP00000496938.1:n.*2043C>T
ENST00000446542.5:n.1006C>T (NPPA-AS1)
ENST00000376476.1:c.-27-219G>A (NPPA) ENSP00000365659.1:n.-27-219G>A
ENST00000376480.7:c.27G>A (NPPA) MANE Select ENSP00000365663.3:p.Val9=
ENST00000610706.1:c.27G>A (NPPA) ENSP00000483195.1:p.Val9=
NM_006172.3:c.27G>A , LRG_751t1:c.27G>A (NPPA) NP_006163.1:p.Val9=
NM_006172.4:c.27G>A (NPPA) MANE Select NP_006163.1:p.Val9=
Search 100 bp 5'
Search 100 bp 3'