Canonical Allele Identifier: CA416107054
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1163775216
gnomAD v2: 1-11905706-A-G
gnomAD v3: 1-11845649-A-G
gnomAD v4: 1-11845649-A-G
MyVariant Identifiers: chr1:g.11905706A>G (hg19) chr1:g.11845649A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845649A>G , CM000663.2:g.11845649A>G GRCh38
NC_000001.10:g.11905706A>G , CM000663.1:g.11905706A>G GRCh37
NC_000001.9:g.11828293A>G NCBI36
NG_012926.1:g.7135T>C , LRG_751:g.7135T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1844A>G (CLCN6) ENSP00000496938.1:n.*1844A>G
ENST00000446542.5:n.664A>G (NPPA-AS1)
NR_037806.1:n.1362A>G (NPPA-AS1)
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