Canonical Allele Identifier: CA1153831715

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1645073592
• gnomAD v4: 1-11847042-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847042G>T , CM000663.2:g.11847042G>T	GRCh38
NC_000001.10:g.11907099G>T , CM000663.1:g.11907099G>T	GRCh37
NC_000001.9:g.11829686G>T	NCBI36
NG_012926.1:g.5742C>A , LRG_751:g.5742C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1962-535G>T (CLCN6)	ENSP00000496938.1:n.*1962-535G>T
ENST00000446542.5:n.782-392G>T (NPPA-AS1)
ENST00000376476.1:c.300+71C>A (NPPA)	ENSP00000365659.1:n.300+71C>A
ENST00000376480.7:c.450+71C>A (NPPA) MANE Select	ENSP00000365663.3:n.450+71C>A
ENST00000610706.1:c.450+71C>A (NPPA)	ENSP00000483195.1:n.450+71C>A
NM_006172.3:c.450+71C>A , LRG_751t1:c.450+71C>A (NPPA)	NP_006163.1:n.450+71C>A
NR_037806.1:n.1480-392G>T (NPPA-AS1)
NM_006172.4:c.450+71C>A (NPPA) MANE Select	NP_006163.1:n.450+71C>A