Canonical Allele Identifier: CA416106035

Gene: CLCN6 NPPA-AS1

Linked Data

• MyVariant Identifiers: chr1:g.11903905A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843848A>C , CM000663.2:g.11843848A>C	GRCh38
NC_000001.10:g.11903905A>C , CM000663.1:g.11903905A>C	GRCh37
NC_000001.9:g.11826492A>C	NCBI36
NG_008766.1:g.42699A>C
NG_012926.1:g.8936T>G , LRG_751:g.8936T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1516A>C (CLCN6)	ENSP00000496938.1:n.*1516A>C
ENST00000446542.5:n.336A>C (NPPA-AS1)
NR_037806.1:n.1034A>C (NPPA-AS1)