Canonical Allele Identifier: CA521195782
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11847023G>T
GRCh37 chr1:g.11907080G>T
gnomAD v2:
1:11907080 G / T
gnomAD v3:
1:11847023 G / T
gnomAD v4:
chr1-11847023-G-T
Joint Max Group AF 0.00003089 (NFE)
Genomes Max Group AF 0.00005847 (NFE)
Exomes Max Group AF 0.00003007 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847023G>T , CM000663.2:g.11847023G>T GRCh38
NC_000001.10:g.11907080G>T , CM000663.1:g.11907080G>T GRCh37
NC_000001.9:g.11829667G>T NCBI36
NG_012926.1:g.5761C>A , LRG_751:g.5761C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-554G>T (CLCN6) ENSP00000496938.1:n.*1962-554G>T
ENST00000446542.5:n.782-411G>T (NPPA-AS1)
ENST00000376476.1:c.300+90C>A (NPPA) ENSP00000365659.1:n.300+90C>A
ENST00000376480.7:c.450+90C>A (NPPA) MANE Select ENSP00000365663.3:n.450+90C>A
ENST00000610706.1:c.450+90C>A (NPPA) ENSP00000483195.1:n.450+90C>A
NM_006172.3:c.450+90C>A , LRG_751t1:c.450+90C>A (NPPA) NP_006163.1:n.450+90C>A
NR_037806.1:n.1480-411G>T (NPPA-AS1)
NM_006172.4:c.450+90C>A (NPPA) MANE Select NP_006163.1:n.450+90C>A
Search 100 bp 5'
Search 100 bp 3'