Canonical Allele Identifier: CA416106285
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903990T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843933T>G , CM000663.2:g.11843933T>G GRCh38
NC_000001.10:g.11903990T>G , CM000663.1:g.11903990T>G GRCh37
NC_000001.9:g.11826577T>G NCBI36
NG_008766.1:g.42784T>G
NG_012926.1:g.8851A>C , LRG_751:g.8851A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1601T>G (CLCN6) ENSP00000496938.1:n.*1601T>G
ENST00000446542.5:n.421T>G (NPPA-AS1)
NR_037806.1:n.1119T>G (NPPA-AS1)