Canonical Allele Identifier: CA597126
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1437686
ClinVar RCV Id: RCV001934072
dbSNP Id: rs766292107
ExAC: 1:11907693 A / G
gnomAD v2: 1-11907693-A-G
gnomAD v3: 1-11847636-A-G
gnomAD v4: 1-11847636-A-G
MyVariant Identifiers: chr1:g.11907693A>G (hg19) chr1:g.11847636A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847636A>G , CM000663.2:g.11847636A>G GRCh38
NC_000001.10:g.11907693A>G , CM000663.1:g.11907693A>G GRCh37
NC_000001.9:g.11830280A>G NCBI36
NG_012926.1:g.5148T>C , LRG_751:g.5148T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2021A>G (CLCN6) ENSP00000496938.1:n.*2021A>G
ENST00000446542.5:n.984A>G (NPPA-AS1)
ENST00000376476.1:c.-27-197T>C (NPPA) ENSP00000365659.1:n.-27-197T>C
ENST00000376480.7:c.49T>C (NPPA) MANE Select ENSP00000365663.3:p.Phe17Leu
ENST00000610706.1:c.49T>C (NPPA) ENSP00000483195.1:p.Phe17Leu
NM_006172.3:c.49T>C , LRG_751t1:c.49T>C (NPPA) NP_006163.1:p.Phe17Leu
NM_006172.4:c.49T>C (NPPA) MANE Select NP_006163.1:p.Phe17Leu
Search 100 bp 5'
Search 100 bp 3'