Canonical Allele Identifier: CA18006849

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs752892198
• gnomAD v3: 1-11843811-T-G
• gnomAD v4: 1-11843811-T-G
• MyVariant Identifiers: chr1:g.11903868T>G (hg19) ; chr1:g.11843811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843811T>G , CM000663.2:g.11843811T>G	GRCh38
NC_000001.10:g.11903868T>G , CM000663.1:g.11903868T>G	GRCh37
NC_000001.9:g.11826455T>G	NCBI36
NG_008766.1:g.42662T>G
NG_012926.1:g.8973A>C , LRG_751:g.8973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1479T>G (CLCN6)	ENSP00000496938.1:n.*1479T>G
ENST00000446542.5:n.299T>G (NPPA-AS1)
NR_037806.1:n.997T>G (NPPA-AS1)