Canonical Allele Identifier: CA416106361
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904017A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843960A>G , CM000663.2:g.11843960A>G GRCh38
NC_000001.10:g.11904017A>G , CM000663.1:g.11904017A>G GRCh37
NC_000001.9:g.11826604A>G NCBI36
NG_008766.1:g.42811A>G
NG_012926.1:g.8824T>C , LRG_751:g.8824T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1628A>G (CLCN6) ENSP00000496938.1:n.*1628A>G
ENST00000446542.5:n.448A>G (NPPA-AS1)
NR_037806.1:n.1146A>G (NPPA-AS1)