Canonical Allele Identifier: CA416107088
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs762933650
MyVariant Identifiers: chr1:g.11905718G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845661G>C , CM000663.2:g.11845661G>C GRCh38
NC_000001.10:g.11905718G>C , CM000663.1:g.11905718G>C GRCh37
NC_000001.9:g.11828305G>C NCBI36
NG_012926.1:g.7123C>G , LRG_751:g.7123C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1856G>C (CLCN6) ENSP00000496938.1:n.*1856G>C
ENST00000446542.5:n.676G>C (NPPA-AS1)
NR_037806.1:n.1374G>C (NPPA-AS1)
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