Canonical Allele Identifier: CA416106829
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11845593-G-T
MyVariant Identifiers: chr1:g.11905650G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845593G>T , CM000663.2:g.11845593G>T GRCh38
NC_000001.10:g.11905650G>T , CM000663.1:g.11905650G>T GRCh37
NC_000001.9:g.11828237G>T NCBI36
NG_012926.1:g.7191C>A , LRG_751:g.7191C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1788G>T (CLCN6) ENSP00000496938.1:n.*1788G>T
ENST00000446542.5:n.608G>T (NPPA-AS1)
NR_037806.1:n.1306G>T (NPPA-AS1)
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