Canonical Allele Identifier: CA416106030

Gene: CLCN6 NPPA-AS1

Linked Data

• MyVariant Identifiers: chr1:g.11903903C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843846C>G , CM000663.2:g.11843846C>G	GRCh38
NC_000001.10:g.11903903C>G , CM000663.1:g.11903903C>G	GRCh37
NC_000001.9:g.11826490C>G	NCBI36
NG_008766.1:g.42697C>G
NG_012926.1:g.8938G>C , LRG_751:g.8938G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1514C>G (CLCN6)	ENSP00000496938.1:n.*1514C>G
ENST00000446542.5:n.334C>G (NPPA-AS1)
NR_037806.1:n.1032C>G (NPPA-AS1)