Canonical Allele Identifier: CA416106275
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11843930-T-C
MyVariant Identifiers: chr1:g.11903987T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843930T>C , CM000663.2:g.11843930T>C GRCh38
NC_000001.10:g.11903987T>C , CM000663.1:g.11903987T>C GRCh37
NC_000001.9:g.11826574T>C NCBI36
NG_008766.1:g.42781T>C
NG_012926.1:g.8854A>G , LRG_751:g.8854A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1598T>C (CLCN6) ENSP00000496938.1:n.*1598T>C
ENST00000446542.5:n.418T>C (NPPA-AS1)
NR_037806.1:n.1116T>C (NPPA-AS1)