Canonical Allele Identifier: CA416106681
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904127T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844070T>G , CM000663.2:g.11844070T>G GRCh38
NC_000001.10:g.11904127T>G , CM000663.1:g.11904127T>G GRCh37
NC_000001.9:g.11826714T>G NCBI36
NG_008766.1:g.42921T>G
NG_012926.1:g.8714A>C , LRG_751:g.8714A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1738T>G (CLCN6) ENSP00000496938.1:n.*1738T>G
ENST00000446542.5:n.558T>G (NPPA-AS1)
NR_037806.1:n.1256T>G (NPPA-AS1)