Canonical Allele Identifier: CA10763180
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs41275508
gnomAD v2: 1-11904049-C-G
gnomAD v3: 1-11843992-C-G
gnomAD v4: 1-11843992-C-G
MyVariant Identifiers: chr1:g.11904049C>G (hg19) chr1:g.11843992C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843992C>G , CM000663.2:g.11843992C>G GRCh38
NC_000001.10:g.11904049C>G , CM000663.1:g.11904049C>G GRCh37
NC_000001.9:g.11826636C>G NCBI36
NG_008766.1:g.42843C>G
NG_012926.1:g.8792G>C , LRG_751:g.8792G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1660C>G (CLCN6) ENSP00000496938.1:n.*1660C>G
ENST00000446542.5:n.480C>G (NPPA-AS1)
NR_037806.1:n.1178C>G (NPPA-AS1)
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