Canonical Allele Identifier: CA521195747

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1243620083
• gnomAD v2: 1-11906878-G-A
• gnomAD v3: 1-11846821-G-A
• gnomAD v4: 1-11846821-G-A
• MyVariant Identifiers: chr1:g.11906878G>A (hg19) ; chr1:g.11846821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846821G>A , CM000663.2:g.11846821G>A	GRCh38
NC_000001.10:g.11906878G>A , CM000663.1:g.11906878G>A	GRCh37
NC_000001.9:g.11829465G>A	NCBI36
NG_012926.1:g.5963C>T , LRG_751:g.5963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-756G>A (CLCN6)	ENSP00000496938.1:n.*1962-756G>A
ENST00000446542.5:n.782-613G>A (NPPA-AS1)
ENST00000376476.1:c.300+292C>T (NPPA)	ENSP00000365659.1:n.300+292C>T
ENST00000376480.7:c.450+292C>T (NPPA) MANE Select	ENSP00000365663.3:n.450+292C>T
ENST00000610706.1:c.450+292C>T (NPPA)	ENSP00000483195.1:n.450+292C>T
NM_006172.3:c.450+292C>T , LRG_751t1:c.450+292C>T (NPPA)	NP_006163.1:n.450+292C>T
NR_037806.1:n.1480-613G>A (NPPA-AS1)
NM_006172.4:c.450+292C>T (NPPA) MANE Select	NP_006163.1:n.450+292C>T