Canonical Allele Identifier: CA416107369
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11845754-C-A
MyVariant Identifiers: chr1:g.11905811C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845754C>A , CM000663.2:g.11845754C>A GRCh38
NC_000001.10:g.11905811C>A , CM000663.1:g.11905811C>A GRCh37
NC_000001.9:g.11828398C>A NCBI36
NG_012926.1:g.7030G>T , LRG_751:g.7030G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1949C>A (CLCN6) ENSP00000496938.1:n.*1949C>A
ENST00000446542.5:n.769C>A (NPPA-AS1)
ENST00000376480.7:c.*255G>T (NPPA) MANE Select ENSP00000365663.3:n.*255G>T
ENST00000610706.1:c.*249G>T (NPPA) ENSP00000483195.1:n.*249G>T
NM_006172.3:c.*255G>T , LRG_751t1:c.*255G>T (NPPA) NP_006163.1:n.*255G>T
NR_037806.1:n.1467C>A (NPPA-AS1)
NM_006172.4:c.*255G>T (NPPA) MANE Select NP_006163.1:n.*255G>T
Search 100 bp 5'
Search 100 bp 3'