Canonical Allele Identifier: CA597077
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2731148
ClinVar RCV Id: RCV003518648
dbSNP Id: rs762538922
ExAC: 1:11907480 A / C
gnomAD v4: 1-11847423-A-C
MyVariant Identifiers: chr1:g.11907480A>C (hg19) chr1:g.11847423A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847423A>C , CM000663.2:g.11847423A>C GRCh38
NC_000001.10:g.11907480A>C , CM000663.1:g.11907480A>C GRCh37
NC_000001.9:g.11830067A>C NCBI36
NG_012926.1:g.5361T>G , LRG_751:g.5361T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-154A>C (CLCN6) ENSP00000496938.1:n.*1962-154A>C
ENST00000446542.5:n.782-11A>C (NPPA-AS1)
ENST00000376476.1:c.-11T>G (NPPA) ENSP00000365659.1:n.-11T>G
ENST00000376480.7:c.140T>G (NPPA) MANE Select ENSP00000365663.3:p.Leu47Trp
ENST00000610706.1:c.140T>G (NPPA) ENSP00000483195.1:p.Leu47Trp
NM_006172.3:c.140T>G , LRG_751t1:c.140T>G (NPPA) NP_006163.1:p.Leu47Trp
NR_037806.1:n.1480-11A>C (NPPA-AS1)
NM_006172.4:c.140T>G (NPPA) MANE Select NP_006163.1:p.Leu47Trp
Search 100 bp 5'
Search 100 bp 3'