Canonical Allele Identifier: CA18010090

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs191907532
• gnomAD v2: 1-11906129-G-T
• gnomAD v3: 1-11846072-G-T
• gnomAD v4: 1-11846072-G-T
• MyVariant Identifiers: chr1:g.11906129G>T (hg19) ; chr1:g.11846072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846072G>T , CM000663.2:g.11846072G>T	GRCh38
NC_000001.10:g.11906129G>T , CM000663.1:g.11906129G>T	GRCh37
NC_000001.9:g.11828716G>T	NCBI36
NG_012926.1:g.6712C>A , LRG_751:g.6712C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+306G>T (CLCN6)	ENSP00000496938.1:n.*1961+306G>T
ENST00000446542.5:n.781+306G>T (NPPA-AS1)
ENST00000376476.1:c.301-58C>A (NPPA)	ENSP00000365659.1:n.301-58C>A
ENST00000376480.7:c.451-58C>A (NPPA) MANE Select	ENSP00000365663.3:n.451-58C>A
ENST00000610706.1:c.451-58C>A (NPPA)	ENSP00000483195.1:n.451-58C>A
NM_006172.3:c.451-58C>A , LRG_751t1:c.451-58C>A (NPPA)	NP_006163.1:n.451-58C>A
NR_037806.1:n.1479+306G>T (NPPA-AS1)
NM_006172.4:c.451-58C>A (NPPA) MANE Select	NP_006163.1:n.451-58C>A