Canonical Allele Identifier: CA18009922
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1046335048
gnomAD v4: 1-11845663-C-A
MyVariant Identifiers: chr1:g.11905720C>A (hg19) chr1:g.11845663C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845663C>A , CM000663.2:g.11845663C>A GRCh38
NC_000001.10:g.11905720C>A , CM000663.1:g.11905720C>A GRCh37
NC_000001.9:g.11828307C>A NCBI36
NG_012926.1:g.7121G>T , LRG_751:g.7121G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1858C>A (CLCN6) ENSP00000496938.1:n.*1858C>A
ENST00000446542.5:n.678C>A (NPPA-AS1)
NR_037806.1:n.1376C>A (NPPA-AS1)
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