Canonical Allele Identifier: CA597015
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 872949
ClinVar RCV Id: RCV001263186 RCV001303284
dbSNP Id: rs1803268
ExAC: 1:11907243 C / T
gnomAD v2: 1-11907243-C-T
gnomAD v3: 1-11847186-C-T
gnomAD v4: 1-11847186-C-T
COSMIC: COSM5186755
MyVariant Identifiers: chr1:g.11907243C>T (hg19) chr1:g.11847186C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847186C>T , CM000663.2:g.11847186C>T GRCh38
NC_000001.10:g.11907243C>T , CM000663.1:g.11907243C>T GRCh37
NC_000001.9:g.11829830C>T NCBI36
NG_012926.1:g.5598G>A , LRG_751:g.5598G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-391C>T (CLCN6) ENSP00000496938.1:n.*1962-391C>T
ENST00000446542.5:n.782-248C>T (NPPA-AS1)
ENST00000376476.1:c.227G>A (NPPA) ENSP00000365659.1:p.Arg76Gln
ENST00000376480.7:c.377G>A (NPPA) MANE Select ENSP00000365663.3:p.Arg126Gln
ENST00000610706.1:c.377G>A (NPPA) ENSP00000483195.1:p.Arg126Gln
NM_006172.3:c.377G>A , LRG_751t1:c.377G>A (NPPA) NP_006163.1:p.Arg126Gln
NR_037806.1:n.1480-248C>T (NPPA-AS1)
NM_006172.4:c.377G>A (NPPA) MANE Select NP_006163.1:p.Arg126Gln
Search 100 bp 5'
Search 100 bp 3'