Canonical Allele Identifier: CA338449431
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11847199-G-T
COSMIC: COSM3417946
MyVariant Identifiers: chr1:g.11907256G>T (hg19) chr1:g.11847199G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847199G>T , CM000663.2:g.11847199G>T GRCh38
NC_000001.10:g.11907256G>T , CM000663.1:g.11907256G>T GRCh37
NC_000001.9:g.11829843G>T NCBI36
NG_012926.1:g.5585C>A , LRG_751:g.5585C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-378G>T (CLCN6) ENSP00000496938.1:n.*1962-378G>T
ENST00000446542.5:n.782-235G>T (NPPA-AS1)
ENST00000376476.1:c.214C>A (NPPA) ENSP00000365659.1:p.Pro72Thr
ENST00000376480.7:c.364C>A (NPPA) MANE Select ENSP00000365663.3:p.Pro122Thr
ENST00000610706.1:c.364C>A (NPPA) ENSP00000483195.1:p.Pro122Thr
NM_006172.3:c.364C>A , LRG_751t1:c.364C>A (NPPA) NP_006163.1:p.Pro122Thr
NR_037806.1:n.1480-235G>T (NPPA-AS1)
NM_006172.4:c.364C>A (NPPA) MANE Select NP_006163.1:p.Pro122Thr
Search 100 bp 5'
Search 100 bp 3'