Canonical Allele Identifier: CA338450802

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1429714737
• gnomAD v3: 1-11847316-A-G
• gnomAD v4: 1-11847316-A-G
• MyVariant Identifiers: chr1:g.11907373A>G (hg19) ; chr1:g.11847316A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847316A>G , CM000663.2:g.11847316A>G	GRCh38
NC_000001.10:g.11907373A>G , CM000663.1:g.11907373A>G	GRCh37
NC_000001.9:g.11829960A>G	NCBI36
NG_012926.1:g.5468T>C , LRG_751:g.5468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-261A>G (CLCN6)	ENSP00000496938.1:n.*1962-261A>G
ENST00000446542.5:n.782-118A>G (NPPA-AS1)
ENST00000376476.1:c.97T>C (NPPA)	ENSP00000365659.1:p.Trp33Arg
ENST00000376480.7:c.247T>C (NPPA) MANE Select	ENSP00000365663.3:p.Trp83Arg
ENST00000610706.1:c.247T>C (NPPA)	ENSP00000483195.1:p.Trp83Arg
NM_006172.3:c.247T>C , LRG_751t1:c.247T>C (NPPA)	NP_006163.1:p.Trp83Arg
NR_037806.1:n.1480-118A>G (NPPA-AS1)
NM_006172.4:c.247T>C (NPPA) MANE Select	NP_006163.1:p.Trp83Arg