Canonical Allele Identifier: CA416106096
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903925C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843868C>T , CM000663.2:g.11843868C>T GRCh38
NC_000001.10:g.11903925C>T , CM000663.1:g.11903925C>T GRCh37
NC_000001.9:g.11826512C>T NCBI36
NG_008766.1:g.42719C>T
NG_012926.1:g.8916G>A , LRG_751:g.8916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1536C>T (CLCN6) ENSP00000496938.1:n.*1536C>T
ENST00000446542.5:n.356C>T (NPPA-AS1)
NR_037806.1:n.1054C>T (NPPA-AS1)