Canonical Allele Identifier: CA338451299
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1366098026
gnomAD v2: 1-11907436-C-G
gnomAD v4: 1-11847379-C-G
MyVariant Identifiers: chr1:g.11907436C>G (hg19) chr1:g.11847379C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847379C>G , CM000663.2:g.11847379C>G GRCh38
NC_000001.10:g.11907436C>G , CM000663.1:g.11907436C>G GRCh37
NC_000001.9:g.11830023C>G NCBI36
NG_012926.1:g.5405G>C , LRG_751:g.5405G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-198C>G (CLCN6) ENSP00000496938.1:n.*1962-198C>G
ENST00000446542.5:n.782-55C>G (NPPA-AS1)
ENST00000376476.1:c.34G>C (NPPA) ENSP00000365659.1:p.Val12Leu
ENST00000376480.7:c.184G>C (NPPA) MANE Select ENSP00000365663.3:p.Val62Leu
ENST00000610706.1:c.184G>C (NPPA) ENSP00000483195.1:p.Val62Leu
NM_006172.3:c.184G>C , LRG_751t1:c.184G>C (NPPA) NP_006163.1:p.Val62Leu
NR_037806.1:n.1480-55C>G (NPPA-AS1)
NM_006172.4:c.184G>C (NPPA) MANE Select NP_006163.1:p.Val62Leu
Search 100 bp 5'
Search 100 bp 3'