Canonical Allele Identifier: CA416107494

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1354375858
• gnomAD v2: 1-11906755-C-A
• gnomAD v3: 1-11846698-C-A
• gnomAD v4: 1-11846698-C-A
• MyVariant Identifiers: chr1:g.11906755C>A (hg19) ; chr1:g.11846698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846698C>A , CM000663.2:g.11846698C>A	GRCh38
NC_000001.10:g.11906755C>A , CM000663.1:g.11906755C>A	GRCh37
NC_000001.9:g.11829342C>A	NCBI36
NG_012926.1:g.6086G>T , LRG_751:g.6086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-879C>A (CLCN6)	ENSP00000496938.1:n.*1962-879C>A
ENST00000446542.5:n.782-736C>A (NPPA-AS1)
ENST00000376476.1:c.300+415G>T (NPPA)	ENSP00000365659.1:n.300+415G>T
ENST00000376480.7:c.450+415G>T (NPPA) MANE Select	ENSP00000365663.3:n.450+415G>T
ENST00000610706.1:c.450+415G>T (NPPA)	ENSP00000483195.1:n.450+415G>T
NM_006172.3:c.450+415G>T , LRG_751t1:c.450+415G>T (NPPA)	NP_006163.1:n.450+415G>T
NR_037806.1:n.1480-736C>A (NPPA-AS1)
NM_006172.4:c.450+415G>T (NPPA) MANE Select	NP_006163.1:n.450+415G>T