Canonical Allele Identifier: CA2643309324
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11843606-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843606G>A , CM000663.2:g.11843606G>A GRCh38
NC_000001.10:g.11903663G>A , CM000663.1:g.11903663G>A GRCh37
NC_000001.9:g.11826250G>A NCBI36
NG_008766.1:g.42457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-128G>A (CLCN6) ENSP00000496938.1:n.*1402-128G>A
ENST00000446542.5:n.192-98G>A (NPPA-AS1)
NR_037806.1:n.890-98G>A (NPPA-AS1)
Search 100 bp 5'
Search 100 bp 3'