Canonical Allele Identifier: CA18006863
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs184222829
gnomAD v2: 1-11903897-C-T
gnomAD v3: 1-11843840-C-T
gnomAD v4: 1-11843840-C-T
MyVariant Identifiers: chr1:g.11903897C>T (hg19) chr1:g.11843840C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843840C>T , CM000663.2:g.11843840C>T GRCh38
NC_000001.10:g.11903897C>T , CM000663.1:g.11903897C>T GRCh37
NC_000001.9:g.11826484C>T NCBI36
NG_008766.1:g.42691C>T
NG_012926.1:g.8944G>A , LRG_751:g.8944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1508C>T (CLCN6) ENSP00000496938.1:n.*1508C>T
ENST00000446542.5:n.328C>T (NPPA-AS1)
NR_037806.1:n.1026C>T (NPPA-AS1)
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