Canonical Allele Identifier: CA416106834
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11845595-A-C
MyVariant Identifiers: chr1:g.11905652A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845595A>C , CM000663.2:g.11845595A>C GRCh38
NC_000001.10:g.11905652A>C , CM000663.1:g.11905652A>C GRCh37
NC_000001.9:g.11828239A>C NCBI36
NG_012926.1:g.7189T>G , LRG_751:g.7189T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1790A>C (CLCN6) ENSP00000496938.1:n.*1790A>C
ENST00000446542.5:n.610A>C (NPPA-AS1)
NR_037806.1:n.1308A>C (NPPA-AS1)
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