Canonical Allele Identifier: CA416105668

Gene: CLCN6 NPPA-AS1

Linked Data

• MyVariant Identifiers: chr1:g.11903794T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843737T>G , CM000663.2:g.11843737T>G	GRCh38
NC_000001.10:g.11903794T>G , CM000663.1:g.11903794T>G	GRCh37
NC_000001.9:g.11826381T>G	NCBI36
NG_008766.1:g.42588T>G
NG_012926.1:g.9047A>C , LRG_751:g.9047A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1405T>G (CLCN6)	ENSP00000496938.1:n.*1405T>G
ENST00000446542.5:n.225T>G (NPPA-AS1)
NR_037806.1:n.923T>G (NPPA-AS1)