Canonical Allele Identifier: CA2643310004
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11844097-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844097C>A , CM000663.2:g.11844097C>A GRCh38
NC_000001.10:g.11904154C>A , CM000663.1:g.11904154C>A GRCh37
NC_000001.9:g.11826741C>A NCBI36
NG_008766.1:g.42948C>A
NG_012926.1:g.8687G>T , LRG_751:g.8687G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1741+24C>A (CLCN6) ENSP00000496938.1:n.*1741+24C>A
ENST00000446542.5:n.561+24C>A (NPPA-AS1)
NR_037806.1:n.1259+24C>A (NPPA-AS1)