Canonical Allele Identifier: CA416106545
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11844024-C-A
MyVariant Identifiers: chr1:g.11904081C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844024C>A , CM000663.2:g.11844024C>A GRCh38
NC_000001.10:g.11904081C>A , CM000663.1:g.11904081C>A GRCh37
NC_000001.9:g.11826668C>A NCBI36
NG_008766.1:g.42875C>A
NG_012926.1:g.8760G>T , LRG_751:g.8760G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1692C>A (CLCN6) ENSP00000496938.1:n.*1692C>A
ENST00000446542.5:n.512C>A (NPPA-AS1)
NR_037806.1:n.1210C>A (NPPA-AS1)