Canonical Allele Identifier: CA597030
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2046566
ClinVar RCV Id: RCV002926632
dbSNP Id: rs369737600
ExAC: 1:11907300 C / G
gnomAD v2: 1-11907300-C-G
gnomAD v3: 1-11847243-C-G
gnomAD v4: 1-11847243-C-G
MyVariant Identifiers: chr1:g.11907300C>G (hg19) chr1:g.11847243C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847243C>G , CM000663.2:g.11847243C>G GRCh38
NC_000001.10:g.11907300C>G , CM000663.1:g.11907300C>G GRCh37
NC_000001.9:g.11829887C>G NCBI36
NG_012926.1:g.5541G>C , LRG_751:g.5541G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-334C>G (CLCN6) ENSP00000496938.1:n.*1962-334C>G
ENST00000446542.5:n.782-191C>G (NPPA-AS1)
ENST00000376476.1:c.170G>C (NPPA) ENSP00000365659.1:p.Arg57Pro
ENST00000376480.7:c.320G>C (NPPA) MANE Select ENSP00000365663.3:p.Arg107Pro
ENST00000610706.1:c.320G>C (NPPA) ENSP00000483195.1:p.Arg107Pro
NM_006172.3:c.320G>C , LRG_751t1:c.320G>C (NPPA) NP_006163.1:p.Arg107Pro
NR_037806.1:n.1480-191C>G (NPPA-AS1)
NM_006172.4:c.320G>C (NPPA) MANE Select NP_006163.1:p.Arg107Pro
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