Canonical Allele Identifier: CA416106564
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904087T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844030T>G , CM000663.2:g.11844030T>G GRCh38
NC_000001.10:g.11904087T>G , CM000663.1:g.11904087T>G GRCh37
NC_000001.9:g.11826674T>G NCBI36
NG_008766.1:g.42881T>G
NG_012926.1:g.8754A>C , LRG_751:g.8754A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1698T>G (CLCN6) ENSP00000496938.1:n.*1698T>G
ENST00000446542.5:n.518T>G (NPPA-AS1)
NR_037806.1:n.1216T>G (NPPA-AS1)