Canonical Allele Identifier: CA416106171

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs1422553968
• gnomAD v2: 1-11903950-C-T
• gnomAD v3: 1-11843893-C-T
• gnomAD v4: 1-11843893-C-T
• MyVariant Identifiers: chr1:g.11903950C>T (hg19) ; chr1:g.11843893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843893C>T , CM000663.2:g.11843893C>T	GRCh38
NC_000001.10:g.11903950C>T , CM000663.1:g.11903950C>T	GRCh37
NC_000001.9:g.11826537C>T	NCBI36
NG_008766.1:g.42744C>T
NG_012926.1:g.8891G>A , LRG_751:g.8891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1561C>T (CLCN6)	ENSP00000496938.1:n.*1561C>T
ENST00000446542.5:n.381C>T (NPPA-AS1)
NR_037806.1:n.1079C>T (NPPA-AS1)