Canonical Allele Identifier: CA15092301
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11845924A>G
GRCh37 chr1:g.11905981A>G
gnomAD v2:
1:11905981 A / G
gnomAD v3:
1:11845924 A / G
gnomAD v4:
chr1-11845924-A-G
Joint Max Group AF 0.39952163 (AFR)
Genomes Max Group AF 0.3979189 (AFR)
Exomes Max Group AF 0.39790346 (AFR)
ClinVar RCV:
RCV001617646
ClinVar Variation:
1233521
dbSNP:
5067
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845924A>G , CM000663.2:g.11845924A>G GRCh38
NC_000001.10:g.11905981A>G , CM000663.1:g.11905981A>G GRCh37
NC_000001.9:g.11828568A>G NCBI36
NG_012926.1:g.6860T>C , LRG_751:g.6860T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1961+158A>G (CLCN6) ENSP00000496938.1:n.*1961+158A>G
ENST00000446542.5:n.781+158A>G (NPPA-AS1)
ENST00000376476.1:c.*85T>C (NPPA) ENSP00000365659.1:n.*85T>C
ENST00000376480.7:c.*85T>C (NPPA) MANE Select ENSP00000365663.3:n.*85T>C
ENST00000610706.1:c.*79T>C (NPPA) ENSP00000483195.1:n.*79T>C
NM_006172.3:c.*85T>C , LRG_751t1:c.*85T>C (NPPA) NP_006163.1:n.*85T>C
NR_037806.1:n.1479+158A>G (NPPA-AS1)
NM_006172.4:c.*85T>C (NPPA) MANE Select NP_006163.1:n.*85T>C
Search 100 bp 5'
Search 100 bp 3'