Canonical Allele Identifier: CA521195364
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1457166117
gnomAD v2: 1-11903562-T-C
gnomAD v3: 1-11843505-T-C
gnomAD v4: 1-11843505-T-C
MyVariant Identifiers: chr1:g.11903562T>C (hg19) chr1:g.11843505T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843505T>C , CM000663.2:g.11843505T>C GRCh38
NC_000001.10:g.11903562T>C , CM000663.1:g.11903562T>C GRCh37
NC_000001.9:g.11826149T>C NCBI36
NG_008766.1:g.42356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-229T>C (CLCN6) ENSP00000496938.1:n.*1402-229T>C
ENST00000446542.5:n.192-199T>C (NPPA-AS1)
NR_037806.1:n.890-199T>C (NPPA-AS1)
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