Canonical Allele Identifier: CA596974

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs764876033
• ExAC: 1:11906040 C / T
• gnomAD v2: 1-11906040-C-T
• gnomAD v3: 1-11845983-C-T
• gnomAD v4: 1-11845983-C-T
• MyVariant Identifiers: chr1:g.11906040C>T (hg19) ; chr1:g.11845983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845983C>T , CM000663.2:g.11845983C>T	GRCh38
NC_000001.10:g.11906040C>T , CM000663.1:g.11906040C>T	GRCh37
NC_000001.9:g.11828627C>T	NCBI36
NG_012926.1:g.6801G>A , LRG_751:g.6801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+217C>T (CLCN6)	ENSP00000496938.1:n.*1961+217C>T
ENST00000446542.5:n.781+217C>T (NPPA-AS1)
ENST00000376476.1:c.*26G>A (NPPA)	ENSP00000365659.1:n.*26G>A
ENST00000376480.7:c.*26G>A (NPPA) MANE Select	ENSP00000365663.3:n.*26G>A
ENST00000610706.1:c.*20G>A (NPPA)	ENSP00000483195.1:n.*20G>A
NM_006172.3:c.*26G>A , LRG_751t1:c.*26G>A (NPPA)	NP_006163.1:n.*26G>A
NR_037806.1:n.1479+217C>T (NPPA-AS1)
NM_006172.4:c.*26G>A (NPPA) MANE Select	NP_006163.1:n.*26G>A