Canonical Allele Identifier: CA18006802
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs931951720
gnomAD v2: 1-11903632-A-G
gnomAD v3: 1-11843575-A-G
gnomAD v4: 1-11843575-A-G
MyVariant Identifiers: chr1:g.11903632A>G (hg19) chr1:g.11843575A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843575A>G , CM000663.2:g.11843575A>G GRCh38
NC_000001.10:g.11903632A>G , CM000663.1:g.11903632A>G GRCh37
NC_000001.9:g.11826219A>G NCBI36
NG_008766.1:g.42426A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-159A>G (CLCN6) ENSP00000496938.1:n.*1402-159A>G
ENST00000446542.5:n.192-129A>G (NPPA-AS1)
NR_037806.1:n.890-129A>G (NPPA-AS1)
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