Canonical Allele Identifier: CA597129
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 944170
ClinVar RCV Id: RCV001214510 RCV002484169
dbSNP Id: rs143419574
ExAC: 1:11907717 C / T
gnomAD v2: 1-11907717-C-T
gnomAD v3: 1-11847660-C-T
gnomAD v4: 1-11847660-C-T
MyVariant Identifiers: chr1:g.11907717C>T (hg19) chr1:g.11907717_11907720delinsTGGT (hg19) chr1:g.11847660C>T (hg38) chr1:g.11847660_11847663delinsTGGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847660C>T , CM000663.2:g.11847660C>T GRCh38
NC_000001.10:g.11907717C>T , CM000663.1:g.11907717C>T GRCh37
NC_000001.9:g.11830304C>T NCBI36
NG_012926.1:g.5124G>A , LRG_751:g.5124G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2045C>T (CLCN6) ENSP00000496938.1:n.*2045C>T
ENST00000446542.5:n.1008C>T (NPPA-AS1)
ENST00000376476.1:c.-27-221G>A (NPPA) ENSP00000365659.1:n.-27-221G>A
ENST00000376480.7:c.25G>A (NPPA) MANE Select ENSP00000365663.3:p.Val9Met
ENST00000610706.1:c.25G>A (NPPA) ENSP00000483195.1:p.Val9Met
NM_006172.3:c.25G>A , LRG_751t1:c.25G>A (NPPA) NP_006163.1:p.Val9Met
NM_006172.4:c.25G>A (NPPA) MANE Select NP_006163.1:p.Val9Met
Search 100 bp 5'
Search 100 bp 3'