Canonical Allele Identifier: CA416106191
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903957C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843900C>G , CM000663.2:g.11843900C>G GRCh38
NC_000001.10:g.11903957C>G , CM000663.1:g.11903957C>G GRCh37
NC_000001.9:g.11826544C>G NCBI36
NG_008766.1:g.42751C>G
NG_012926.1:g.8884G>C , LRG_751:g.8884G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1568C>G (CLCN6) ENSP00000496938.1:n.*1568C>G
ENST00000446542.5:n.388C>G (NPPA-AS1)
NR_037806.1:n.1086C>G (NPPA-AS1)
Search 100 bp 5'
Search 100 bp 3'