Canonical Allele Identifier: CA1153827131
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1645049358

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843467C>T , CM000663.2:g.11843467C>T GRCh38
NC_000001.10:g.11903524C>T , CM000663.1:g.11903524C>T GRCh37
NC_000001.9:g.11826111C>T NCBI36
NG_008766.1:g.42318C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-267C>T (CLCN6) ENSP00000496938.1:n.*1402-267C>T
ENST00000446542.5:n.192-237C>T (NPPA-AS1)
NR_037806.1:n.890-237C>T (NPPA-AS1)