Canonical Allele Identifier: CA416107099
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11845665-T-G
MyVariant Identifiers: chr1:g.11905722T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845665T>G , CM000663.2:g.11845665T>G GRCh38
NC_000001.10:g.11905722T>G , CM000663.1:g.11905722T>G GRCh37
NC_000001.9:g.11828309T>G NCBI36
NG_012926.1:g.7119A>C , LRG_751:g.7119A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1860T>G (CLCN6) ENSP00000496938.1:n.*1860T>G
ENST00000446542.5:n.680T>G (NPPA-AS1)
NR_037806.1:n.1378T>G (NPPA-AS1)
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