Canonical Allele Identifier: CA18006799
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs921956679
gnomAD v2: 1-11903604-G-A
gnomAD v3: 1-11843547-G-A
gnomAD v4: 1-11843547-G-A
MyVariant Identifiers: chr1:g.11903604G>A (hg19) chr1:g.11843547G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843547G>A , CM000663.2:g.11843547G>A GRCh38
NC_000001.10:g.11903604G>A , CM000663.1:g.11903604G>A GRCh37
NC_000001.9:g.11826191G>A NCBI36
NG_008766.1:g.42398G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-187G>A (CLCN6) ENSP00000496938.1:n.*1402-187G>A
ENST00000446542.5:n.192-157G>A (NPPA-AS1)
NR_037806.1:n.890-157G>A (NPPA-AS1)
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