Canonical Allele Identifier: CA416107087
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11845660-C-T
MyVariant Identifiers: chr1:g.11905717C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845660C>T , CM000663.2:g.11845660C>T GRCh38
NC_000001.10:g.11905717C>T , CM000663.1:g.11905717C>T GRCh37
NC_000001.9:g.11828304C>T NCBI36
NG_012926.1:g.7124G>A , LRG_751:g.7124G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1855C>T (CLCN6) ENSP00000496938.1:n.*1855C>T
ENST00000446542.5:n.675C>T (NPPA-AS1)
NR_037806.1:n.1373C>T (NPPA-AS1)
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