Canonical Allele Identifier: CA416106453
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904049C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843992C>T , CM000663.2:g.11843992C>T GRCh38
NC_000001.10:g.11904049C>T , CM000663.1:g.11904049C>T GRCh37
NC_000001.9:g.11826636C>T NCBI36
NG_008766.1:g.42843C>T
NG_012926.1:g.8792G>A , LRG_751:g.8792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1660C>T (CLCN6) ENSP00000496938.1:n.*1660C>T
ENST00000446542.5:n.480C>T (NPPA-AS1)
NR_037806.1:n.1178C>T (NPPA-AS1)
Search 100 bp 5'
Search 100 bp 3'