Canonical Allele Identifier: CA338452063
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1490073164
gnomAD v3: 1-11847665-G-T
gnomAD v4: 1-11847665-G-T
MyVariant Identifiers: chr1:g.11907722G>T (hg19) chr1:g.11847665G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847665G>T , CM000663.2:g.11847665G>T GRCh38
NC_000001.10:g.11907722G>T , CM000663.1:g.11907722G>T GRCh37
NC_000001.9:g.11830309G>T NCBI36
NG_012926.1:g.5119C>A , LRG_751:g.5119C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2050G>T (CLCN6) ENSP00000496938.1:n.*2050G>T
ENST00000446542.5:n.1013G>T (NPPA-AS1)
ENST00000376476.1:c.-27-226C>A (NPPA) ENSP00000365659.1:n.-27-226C>A
ENST00000376480.7:c.20C>A (NPPA) MANE Select ENSP00000365663.3:p.Thr7Asn
ENST00000610706.1:c.20C>A (NPPA) ENSP00000483195.1:p.Thr7Asn
NM_006172.3:c.20C>A , LRG_751t1:c.20C>A (NPPA) NP_006163.1:p.Thr7Asn
NM_006172.4:c.20C>A (NPPA) MANE Select NP_006163.1:p.Thr7Asn
Search 100 bp 5'
Search 100 bp 3'