Canonical Allele Identifier: CA416106540
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11904079T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844022T>A , CM000663.2:g.11844022T>A GRCh38
NC_000001.10:g.11904079T>A , CM000663.1:g.11904079T>A GRCh37
NC_000001.9:g.11826666T>A NCBI36
NG_008766.1:g.42873T>A
NG_012926.1:g.8762A>T , LRG_751:g.8762A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1690T>A (CLCN6) ENSP00000496938.1:n.*1690T>A
ENST00000446542.5:n.510T>A (NPPA-AS1)
NR_037806.1:n.1208T>A (NPPA-AS1)