Canonical Allele Identifier: CA18006804

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs1047167671
• MyVariant Identifiers: chr1:g.11903650G>T (hg19) ; chr1:g.11843593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843593G>T , CM000663.2:g.11843593G>T	GRCh38
NC_000001.10:g.11903650G>T , CM000663.1:g.11903650G>T	GRCh37
NC_000001.9:g.11826237G>T	NCBI36
NG_008766.1:g.42444G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1402-141G>T (CLCN6)	ENSP00000496938.1:n.*1402-141G>T
ENST00000446542.5:n.192-111G>T (NPPA-AS1)
NR_037806.1:n.890-111G>T (NPPA-AS1)