Canonical Allele Identifier: CA18009919
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs949325579
gnomAD v3: 1-11845662-G-A
gnomAD v4: 1-11845662-G-A
MyVariant Identifiers: chr1:g.11905719G>A (hg19) chr1:g.11845662G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845662G>A , CM000663.2:g.11845662G>A GRCh38
NC_000001.10:g.11905719G>A , CM000663.1:g.11905719G>A GRCh37
NC_000001.9:g.11828306G>A NCBI36
NG_012926.1:g.7122C>T , LRG_751:g.7122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1857G>A (CLCN6) ENSP00000496938.1:n.*1857G>A
ENST00000446542.5:n.677G>A (NPPA-AS1)
NR_037806.1:n.1375G>A (NPPA-AS1)
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