Canonical Allele Identifier: CA416106312

Gene: CLCN6 NPPA-AS1

Linked Data

• gnomAD v4: 1-11843943-C-T
• MyVariant Identifiers: chr1:g.11904000C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843943C>T , CM000663.2:g.11843943C>T	GRCh38
NC_000001.10:g.11904000C>T , CM000663.1:g.11904000C>T	GRCh37
NC_000001.9:g.11826587C>T	NCBI36
NG_008766.1:g.42794C>T
NG_012926.1:g.8841G>A , LRG_751:g.8841G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1611C>T (CLCN6)	ENSP00000496938.1:n.*1611C>T
ENST00000446542.5:n.431C>T (NPPA-AS1)
NR_037806.1:n.1129C>T (NPPA-AS1)