Canonical Allele Identifier: CA416106344
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904011G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843954G>C , CM000663.2:g.11843954G>C GRCh38
NC_000001.10:g.11904011G>C , CM000663.1:g.11904011G>C GRCh37
NC_000001.9:g.11826598G>C NCBI36
NG_008766.1:g.42805G>C
NG_012926.1:g.8830C>G , LRG_751:g.8830C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1622G>C (CLCN6) ENSP00000496938.1:n.*1622G>C
ENST00000446542.5:n.442G>C (NPPA-AS1)
NR_037806.1:n.1140G>C (NPPA-AS1)