Canonical Allele Identifier: CA416106862
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11905662A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845605A>C , CM000663.2:g.11845605A>C GRCh38
NC_000001.10:g.11905662A>C , CM000663.1:g.11905662A>C GRCh37
NC_000001.9:g.11828249A>C NCBI36
NG_012926.1:g.7179T>G , LRG_751:g.7179T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1800A>C (CLCN6) ENSP00000496938.1:n.*1800A>C
ENST00000446542.5:n.620A>C (NPPA-AS1)
NR_037806.1:n.1318A>C (NPPA-AS1)
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