Canonical Allele Identifier: CA18010131
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11846159G>A
GRCh37 chr1:g.11906216G>A
gnomAD v2:
1:11906216 G / A
gnomAD v3:
1:11846159 G / A
gnomAD v4:
chr1-11846159-G-A
Joint Max Group AF 0.00007869 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00008407 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846159G>A , CM000663.2:g.11846159G>A GRCh38
NC_000001.10:g.11906216G>A , CM000663.1:g.11906216G>A GRCh37
NC_000001.9:g.11828803G>A NCBI36
NG_012926.1:g.6625C>T , LRG_751:g.6625C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1961+393G>A (CLCN6) ENSP00000496938.1:n.*1961+393G>A
ENST00000446542.5:n.781+393G>A (NPPA-AS1)
ENST00000376476.1:c.301-145C>T (NPPA) ENSP00000365659.1:n.301-145C>T
ENST00000376480.7:c.451-145C>T (NPPA) MANE Select ENSP00000365663.3:n.451-145C>T
ENST00000610706.1:c.451-145C>T (NPPA) ENSP00000483195.1:n.451-145C>T
NM_006172.3:c.451-145C>T , LRG_751t1:c.451-145C>T (NPPA) NP_006163.1:n.451-145C>T
NR_037806.1:n.1479+393G>A (NPPA-AS1)
NM_006172.4:c.451-145C>T (NPPA) MANE Select NP_006163.1:n.451-145C>T
Search 100 bp 5'
Search 100 bp 3'