Canonical Allele Identifier: CA18006788
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs942487657
gnomAD v2: 1-11903568-C-T
gnomAD v3: 1-11843511-C-T
gnomAD v4: 1-11843511-C-T
MyVariant Identifiers: chr1:g.11903568C>T (hg19) chr1:g.11843511C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843511C>T , CM000663.2:g.11843511C>T GRCh38
NC_000001.10:g.11903568C>T , CM000663.1:g.11903568C>T GRCh37
NC_000001.9:g.11826155C>T NCBI36
NG_008766.1:g.42362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-223C>T (CLCN6) ENSP00000496938.1:n.*1402-223C>T
ENST00000446542.5:n.192-193C>T (NPPA-AS1)
NR_037806.1:n.890-193C>T (NPPA-AS1)
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