Canonical Allele Identifier: CA998632178

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1163713108
• gnomAD v3: 1-11846767-C-T
• gnomAD v4: 1-11846767-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846767C>T , CM000663.2:g.11846767C>T	GRCh38
NC_000001.10:g.11906824C>T , CM000663.1:g.11906824C>T	GRCh37
NC_000001.9:g.11829411C>T	NCBI36
NG_012926.1:g.6017G>A , LRG_751:g.6017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-810C>T (CLCN6)	ENSP00000496938.1:n.*1962-810C>T
ENST00000446542.5:n.782-667C>T (NPPA-AS1)
ENST00000376476.1:c.300+346G>A (NPPA)	ENSP00000365659.1:n.300+346G>A
ENST00000376480.7:c.450+346G>A (NPPA) MANE Select	ENSP00000365663.3:n.450+346G>A
ENST00000610706.1:c.450+346G>A (NPPA)	ENSP00000483195.1:n.450+346G>A
NM_006172.3:c.450+346G>A , LRG_751t1:c.450+346G>A (NPPA)	NP_006163.1:n.450+346G>A
NR_037806.1:n.1480-667C>T (NPPA-AS1)
NM_006172.4:c.450+346G>A (NPPA) MANE Select	NP_006163.1:n.450+346G>A