Canonical Allele Identifier: CA18006887
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs941321677

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843924A>G , CM000663.2:g.11843924A>G GRCh38
NC_000001.10:g.11903981A>G , CM000663.1:g.11903981A>G GRCh37
NC_000001.9:g.11826568A>G NCBI36
NG_008766.1:g.42775A>G
NG_012926.1:g.8860T>C , LRG_751:g.8860T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1592A>G (CLCN6) ENSP00000496938.1:n.*1592A>G
ENST00000446542.5:n.412A>G (NPPA-AS1)
NR_037806.1:n.1110A>G (NPPA-AS1)