Canonical Allele Identifier: CA416105921

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs1238129049
• gnomAD v3: 1-11843810-T-A
• gnomAD v4: 1-11843810-T-A
• MyVariant Identifiers: chr1:g.11903867T>A (hg19) ; chr1:g.11843810T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843810T>A , CM000663.2:g.11843810T>A	GRCh38
NC_000001.10:g.11903867T>A , CM000663.1:g.11903867T>A	GRCh37
NC_000001.9:g.11826454T>A	NCBI36
NG_008766.1:g.42661T>A
NG_012926.1:g.8974A>T , LRG_751:g.8974A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1478T>A (CLCN6)	ENSP00000496938.1:n.*1478T>A
ENST00000446542.5:n.298T>A (NPPA-AS1)
NR_037806.1:n.996T>A (NPPA-AS1)