Canonical Allele Identifier: CA886104171

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs1172200527
• MyVariant Identifiers: chr1:g.11904139C>T (hg19) ; chr1:g.11844082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11844082C>T , CM000663.2:g.11844082C>T	GRCh38
NC_000001.10:g.11904139C>T , CM000663.1:g.11904139C>T	GRCh37
NC_000001.9:g.11826726C>T	NCBI36
NG_008766.1:g.42933C>T
NG_012926.1:g.8702G>A , LRG_751:g.8702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1741+9C>T (CLCN6)	ENSP00000496938.1:n.*1741+9C>T
ENST00000446542.5:n.561+9C>T (NPPA-AS1)
NR_037806.1:n.1259+9C>T (NPPA-AS1)