Canonical Allele Identifier: CA416106104

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs1335904953
• gnomAD v3: 1-11843871-C-A
• gnomAD v4: 1-11843871-C-A
• MyVariant Identifiers: chr1:g.11903928C>A (hg19) ; chr1:g.11843871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843871C>A , CM000663.2:g.11843871C>A	GRCh38
NC_000001.10:g.11903928C>A , CM000663.1:g.11903928C>A	GRCh37
NC_000001.9:g.11826515C>A	NCBI36
NG_008766.1:g.42722C>A
NG_012926.1:g.8913G>T , LRG_751:g.8913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1539C>A (CLCN6)	ENSP00000496938.1:n.*1539C>A
ENST00000446542.5:n.359C>A (NPPA-AS1)
NR_037806.1:n.1057C>A (NPPA-AS1)