Canonical Allele Identifier: CA18006988

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs926606178
• gnomAD v3: 1-11844138-G-A
• gnomAD v4: 1-11844138-G-A
• MyVariant Identifiers: chr1:g.11904195G>A (hg19) ; chr1:g.11844138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11844138G>A , CM000663.2:g.11844138G>A	GRCh38
NC_000001.10:g.11904195G>A , CM000663.1:g.11904195G>A	GRCh37
NC_000001.9:g.11826782G>A	NCBI36
NG_008766.1:g.42989G>A
NG_012926.1:g.8646C>T , LRG_751:g.8646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1741+65G>A (CLCN6)	ENSP00000496938.1:n.*1741+65G>A
ENST00000446542.5:n.561+65G>A (NPPA-AS1)
NR_037806.1:n.1259+65G>A (NPPA-AS1)