Canonical Allele Identifier: CA597127
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 3004476
ClinVar RCV Id: RCV003866115
dbSNP Id: rs367817975
ExAC: 1:11907695 G / A
gnomAD v2: 1-11907695-G-A
gnomAD v4: 1-11847638-G-A
MyVariant Identifiers: chr1:g.11907695G>A (hg19) chr1:g.11847638G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847638G>A , CM000663.2:g.11847638G>A GRCh38
NC_000001.10:g.11907695G>A , CM000663.1:g.11907695G>A GRCh37
NC_000001.9:g.11830282G>A NCBI36
NG_012926.1:g.5146C>T , LRG_751:g.5146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2023G>A (CLCN6) ENSP00000496938.1:n.*2023G>A
ENST00000446542.5:n.986G>A (NPPA-AS1)
ENST00000376476.1:c.-27-199C>T (NPPA) ENSP00000365659.1:n.-27-199C>T
ENST00000376480.7:c.47C>T (NPPA) MANE Select ENSP00000365663.3:p.Ala16Val
ENST00000610706.1:c.47C>T (NPPA) ENSP00000483195.1:p.Ala16Val
NM_006172.3:c.47C>T , LRG_751t1:c.47C>T (NPPA) NP_006163.1:p.Ala16Val
NM_006172.4:c.47C>T (NPPA) MANE Select NP_006163.1:p.Ala16Val
Search 100 bp 5'
Search 100 bp 3'