Canonical Allele Identifier: CA597003

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• ClinVar Variation Id: 1297505
• ClinVar RCV Id: RCV001723286 ; RCV003631213
• dbSNP Id: rs778138090
• ExAC: 1:11907172 G / A
• gnomAD v2: 1-11907172-G-A
• gnomAD v3: 1-11847115-G-A
• gnomAD v4: 1-11847115-G-A
• MyVariant Identifiers: chr1:g.11907172G>A (hg19) ; chr1:g.11847115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847115G>A , CM000663.2:g.11847115G>A	GRCh38
NC_000001.10:g.11907172G>A , CM000663.1:g.11907172G>A	GRCh37
NC_000001.9:g.11829759G>A	NCBI36
NG_012926.1:g.5669C>T , LRG_751:g.5669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-462G>A (CLCN6)	ENSP00000496938.1:n.*1962-462G>A
ENST00000446542.5:n.782-319G>A (NPPA-AS1)
ENST00000376476.1:c.298C>T (NPPA)	ENSP00000365659.1:p.Arg100Trp
ENST00000376480.7:c.448C>T (NPPA) MANE Select	ENSP00000365663.3:p.Arg150Trp
ENST00000610706.1:c.448C>T (NPPA)	ENSP00000483195.1:p.Arg150Trp
NM_006172.3:c.448C>T , LRG_751t1:c.448C>T (NPPA)	NP_006163.1:p.Arg150Trp
NR_037806.1:n.1480-319G>A (NPPA-AS1)
NM_006172.4:c.448C>T (NPPA) MANE Select	NP_006163.1:p.Arg150Trp