Canonical Allele Identifier: CA597048
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 240292
ClinVar RCV Id: RCV000230212
dbSNP Id: rs755212754
ExAC: 1:11907368 G / A
gnomAD v2: 1-11907368-G-A
gnomAD v3: 1-11847311-G-A
gnomAD v4: 1-11847311-G-A
MyVariant Identifiers: chr1:g.11907368G>A (hg19) chr1:g.11847311G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847311G>A , CM000663.2:g.11847311G>A GRCh38
NC_000001.10:g.11907368G>A , CM000663.1:g.11907368G>A GRCh37
NC_000001.9:g.11829955G>A NCBI36
NG_012926.1:g.5473C>T , LRG_751:g.5473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-266G>A (CLCN6) ENSP00000496938.1:n.*1962-266G>A
ENST00000446542.5:n.782-123G>A (NPPA-AS1)
ENST00000376476.1:c.102C>T (NPPA) ENSP00000365659.1:p.Thr34=
ENST00000376480.7:c.252C>T (NPPA) MANE Select ENSP00000365663.3:p.Thr84=
ENST00000610706.1:c.252C>T (NPPA) ENSP00000483195.1:p.Thr84=
NM_006172.3:c.252C>T , LRG_751t1:c.252C>T (NPPA) NP_006163.1:p.Thr84=
NR_037806.1:n.1480-123G>A (NPPA-AS1)
NM_006172.4:c.252C>T (NPPA) MANE Select NP_006163.1:p.Thr84=
Search 100 bp 5'
Search 100 bp 3'