Canonical Allele Identifier: CA416361985
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1570552190
gnomAD v4: 1-11847230-T-C
MyVariant Identifiers: chr1:g.11907287T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847230T>C , CM000663.2:g.11847230T>C GRCh38
NC_000001.10:g.11907287T>C , CM000663.1:g.11907287T>C GRCh37
NC_000001.9:g.11829874T>C NCBI36
NG_012926.1:g.5554A>G , LRG_751:g.5554A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-347T>C (CLCN6) ENSP00000496938.1:n.*1962-347T>C
ENST00000446542.5:n.782-204T>C (NPPA-AS1)
ENST00000376476.1:c.183A>G (NPPA) ENSP00000365659.1:p.Leu61=
ENST00000376480.7:c.333A>G (NPPA) MANE Select ENSP00000365663.3:p.Leu111=
ENST00000610706.1:c.333A>G (NPPA) ENSP00000483195.1:p.Leu111=
NM_006172.3:c.333A>G , LRG_751t1:c.333A>G (NPPA) NP_006163.1:p.Leu111=
NR_037806.1:n.1480-204T>C (NPPA-AS1)
NM_006172.4:c.333A>G (NPPA) MANE Select NP_006163.1:p.Leu111=
Search 100 bp 5'
Search 100 bp 3'