Canonical Allele Identifier: CA2643309333
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11843622-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843622G>T , CM000663.2:g.11843622G>T GRCh38
NC_000001.10:g.11903679G>T , CM000663.1:g.11903679G>T GRCh37
NC_000001.9:g.11826266G>T NCBI36
NG_008766.1:g.42473G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-112G>T (CLCN6) ENSP00000496938.1:n.*1402-112G>T
ENST00000446542.5:n.192-82G>T (NPPA-AS1)
NR_037806.1:n.890-82G>T (NPPA-AS1)