Canonical Allele Identifier: CA416105767
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903824G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843767G>A , CM000663.2:g.11843767G>A GRCh38
NC_000001.10:g.11903824G>A , CM000663.1:g.11903824G>A GRCh37
NC_000001.9:g.11826411G>A NCBI36
NG_008766.1:g.42618G>A
NG_012926.1:g.9017C>T , LRG_751:g.9017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1435G>A (CLCN6) ENSP00000496938.1:n.*1435G>A
ENST00000446542.5:n.255G>A (NPPA-AS1)
NR_037806.1:n.953G>A (NPPA-AS1)