Canonical Allele Identifier: CA998630405
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1645049098
gnomAD v3: 1-11843443-C-T
gnomAD v4: 1-11843443-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843443C>T , CM000663.2:g.11843443C>T GRCh38
NC_000001.10:g.11903500C>T , CM000663.1:g.11903500C>T GRCh37
NC_000001.9:g.11826087C>T NCBI36
NG_008766.1:g.42294C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-291C>T (CLCN6) ENSP00000496938.1:n.*1402-291C>T
ENST00000446542.5:n.192-261C>T (NPPA-AS1)
NR_037806.1:n.890-261C>T (NPPA-AS1)