Canonical Allele Identifier: CA416105927
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1645051301
MyVariant Identifiers: chr1:g.11903870G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843813G>A , CM000663.2:g.11843813G>A GRCh38
NC_000001.10:g.11903870G>A , CM000663.1:g.11903870G>A GRCh37
NC_000001.9:g.11826457G>A NCBI36
NG_008766.1:g.42664G>A
NG_012926.1:g.8971C>T , LRG_751:g.8971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1481G>A (CLCN6) ENSP00000496938.1:n.*1481G>A
ENST00000446542.5:n.301G>A (NPPA-AS1)
NR_037806.1:n.999G>A (NPPA-AS1)