Canonical Allele Identifier: CA416105641
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903787C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843730C>G , CM000663.2:g.11843730C>G GRCh38
NC_000001.10:g.11903787C>G , CM000663.1:g.11903787C>G GRCh37
NC_000001.9:g.11826374C>G NCBI36
NG_008766.1:g.42581C>G
NG_012926.1:g.9054G>C , LRG_751:g.9054G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1402-4C>G (CLCN6) ENSP00000496938.1:n.*1402-4C>G
ENST00000446542.5:n.218C>G (NPPA-AS1)
NR_037806.1:n.916C>G (NPPA-AS1)