Canonical Allele Identifier: CA416106446
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904046A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843989A>T , CM000663.2:g.11843989A>T GRCh38
NC_000001.10:g.11904046A>T , CM000663.1:g.11904046A>T GRCh37
NC_000001.9:g.11826633A>T NCBI36
NG_008766.1:g.42840A>T
NG_012926.1:g.8795T>A , LRG_751:g.8795T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1657A>T (CLCN6) ENSP00000496938.1:n.*1657A>T
ENST00000446542.5:n.477A>T (NPPA-AS1)
NR_037806.1:n.1175A>T (NPPA-AS1)
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