Canonical Allele Identifier: CA416105743

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs538313923
• gnomAD v2: 1-11903816-G-T
• gnomAD v3: 1-11843759-G-T
• gnomAD v4: 1-11843759-G-T
• MyVariant Identifiers: chr1:g.11903816G>T (hg19) ; chr1:g.11843759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843759G>T , CM000663.2:g.11843759G>T	GRCh38
NC_000001.10:g.11903816G>T , CM000663.1:g.11903816G>T	GRCh37
NC_000001.9:g.11826403G>T	NCBI36
NG_008766.1:g.42610G>T
NG_012926.1:g.9025C>A , LRG_751:g.9025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1427G>T (CLCN6)	ENSP00000496938.1:n.*1427G>T
ENST00000446542.5:n.247G>T (NPPA-AS1)
NR_037806.1:n.945G>T (NPPA-AS1)