Canonical Allele Identifier: CA416106431
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904041C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843984C>T , CM000663.2:g.11843984C>T GRCh38
NC_000001.10:g.11904041C>T , CM000663.1:g.11904041C>T GRCh37
NC_000001.9:g.11826628C>T NCBI36
NG_008766.1:g.42835C>T
NG_012926.1:g.8800G>A , LRG_751:g.8800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1652C>T (CLCN6) ENSP00000496938.1:n.*1652C>T
ENST00000446542.5:n.472C>T (NPPA-AS1)
NR_037806.1:n.1170C>T (NPPA-AS1)