Canonical Allele Identifier: CA416106249
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903978G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843921G>C , CM000663.2:g.11843921G>C GRCh38
NC_000001.10:g.11903978G>C , CM000663.1:g.11903978G>C GRCh37
NC_000001.9:g.11826565G>C NCBI36
NG_008766.1:g.42772G>C
NG_012926.1:g.8863C>G , LRG_751:g.8863C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1589G>C (CLCN6) ENSP00000496938.1:n.*1589G>C
ENST00000446542.5:n.409G>C (NPPA-AS1)
NR_037806.1:n.1107G>C (NPPA-AS1)