Canonical Allele Identifier: CA886103998
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1341298246
gnomAD v3: 1-11843485-A-T
gnomAD v4: 1-11843485-A-T
MyVariant Identifiers: chr1:g.11903542A>T (hg19) chr1:g.11843485A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843485A>T , CM000663.2:g.11843485A>T GRCh38
NC_000001.10:g.11903542A>T , CM000663.1:g.11903542A>T GRCh37
NC_000001.9:g.11826129A>T NCBI36
NG_008766.1:g.42336A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-249A>T (CLCN6) ENSP00000496938.1:n.*1402-249A>T
ENST00000446542.5:n.192-219A>T (NPPA-AS1)
NR_037806.1:n.890-219A>T (NPPA-AS1)
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