Canonical Allele Identifier: CA18006946
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs61764036
gnomAD v2: 1-11904080-C-T
gnomAD v3: 1-11844023-C-T
gnomAD v4: 1-11844023-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844023C>T , CM000663.2:g.11844023C>T GRCh38
NC_000001.10:g.11904080C>T , CM000663.1:g.11904080C>T GRCh37
NC_000001.9:g.11826667C>T NCBI36
NG_008766.1:g.42874C>T
NG_012926.1:g.8761G>A , LRG_751:g.8761G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1691C>T (CLCN6) ENSP00000496938.1:n.*1691C>T
ENST00000446542.5:n.511C>T (NPPA-AS1)
NR_037806.1:n.1209C>T (NPPA-AS1)