Canonical Allele Identifier: CA416106322
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904004T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843947T>A , CM000663.2:g.11843947T>A GRCh38
NC_000001.10:g.11904004T>A , CM000663.1:g.11904004T>A GRCh37
NC_000001.9:g.11826591T>A NCBI36
NG_008766.1:g.42798T>A
NG_012926.1:g.8837A>T , LRG_751:g.8837A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1615T>A (CLCN6) ENSP00000496938.1:n.*1615T>A
ENST00000446542.5:n.435T>A (NPPA-AS1)
NR_037806.1:n.1133T>A (NPPA-AS1)
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