Canonical Allele Identifier: CA998630412
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1570549329
gnomAD v3: 1-11843447-C-T
gnomAD v4: 1-11843447-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843447C>T , CM000663.2:g.11843447C>T GRCh38
NC_000001.10:g.11903504C>T , CM000663.1:g.11903504C>T GRCh37
NC_000001.9:g.11826091C>T NCBI36
NG_008766.1:g.42298C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-287C>T (CLCN6) ENSP00000496938.1:n.*1402-287C>T
ENST00000446542.5:n.192-257C>T (NPPA-AS1)
NR_037806.1:n.890-257C>T (NPPA-AS1)
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