Canonical Allele Identifier: CA18009916
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs762933650
gnomAD v3: 1-11845661-G-A
gnomAD v4: 1-11845661-G-A
MyVariant Identifiers: chr1:g.11905718G>A (hg19) chr1:g.11845661G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845661G>A , CM000663.2:g.11845661G>A GRCh38
NC_000001.10:g.11905718G>A , CM000663.1:g.11905718G>A GRCh37
NC_000001.9:g.11828305G>A NCBI36
NG_012926.1:g.7123C>T , LRG_751:g.7123C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1856G>A (CLCN6) ENSP00000496938.1:n.*1856G>A
ENST00000446542.5:n.676G>A (NPPA-AS1)
NR_037806.1:n.1374G>A (NPPA-AS1)
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