Canonical Allele Identifier: CA2643310028
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11844121-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844121T>C , CM000663.2:g.11844121T>C GRCh38
NC_000001.10:g.11904178T>C , CM000663.1:g.11904178T>C GRCh37
NC_000001.9:g.11826765T>C NCBI36
NG_008766.1:g.42972T>C
NG_012926.1:g.8663A>G , LRG_751:g.8663A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1741+48T>C (CLCN6) ENSP00000496938.1:n.*1741+48T>C
ENST00000446542.5:n.561+48T>C (NPPA-AS1)
NR_037806.1:n.1259+48T>C (NPPA-AS1)