Canonical Allele Identifier: CA416105878
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11843798-T-A
MyVariant Identifiers: chr1:g.11903855T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843798T>A , CM000663.2:g.11843798T>A GRCh38
NC_000001.10:g.11903855T>A , CM000663.1:g.11903855T>A GRCh37
NC_000001.9:g.11826442T>A NCBI36
NG_008766.1:g.42649T>A
NG_012926.1:g.8986A>T , LRG_751:g.8986A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1466T>A (CLCN6) ENSP00000496938.1:n.*1466T>A
ENST00000446542.5:n.286T>A (NPPA-AS1)
NR_037806.1:n.984T>A (NPPA-AS1)
Search 100 bp 5'
Search 100 bp 3'