Canonical Allele Identifier: CA521195446

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs572274970
• gnomAD v2: 1-11904242-A-C
• gnomAD v3: 1-11844185-A-C
• gnomAD v4: 1-11844185-A-C
• MyVariant Identifiers: chr1:g.11904242A>C (hg19) ; chr1:g.11844185A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11844185A>C , CM000663.2:g.11844185A>C	GRCh38
NC_000001.10:g.11904242A>C , CM000663.1:g.11904242A>C	GRCh37
NC_000001.9:g.11826829A>C	NCBI36
NG_008766.1:g.43036A>C
NG_012926.1:g.8599T>G , LRG_751:g.8599T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1741+112A>C (CLCN6)	ENSP00000496938.1:n.*1741+112A>C
ENST00000446542.5:n.561+112A>C (NPPA-AS1)
NR_037806.1:n.1259+112A>C (NPPA-AS1)