Canonical Allele Identifier: CA596979

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs374776982
• ExAC: 1:11906055 G / A
• gnomAD v2: 1-11906055-G-A
• gnomAD v3: 1-11845998-G-A
• gnomAD v4: 1-11845998-G-A
• MyVariant Identifiers: chr1:g.11906055G>A (hg19) ; chr1:g.11845998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845998G>A , CM000663.2:g.11845998G>A	GRCh38
NC_000001.10:g.11906055G>A , CM000663.1:g.11906055G>A	GRCh37
NC_000001.9:g.11828642G>A	NCBI36
NG_012926.1:g.6786C>T , LRG_751:g.6786C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+232G>A (CLCN6)	ENSP00000496938.1:n.*1961+232G>A
ENST00000446542.5:n.781+232G>A (NPPA-AS1)
ENST00000376476.1:c.*11C>T (NPPA)	ENSP00000365659.1:n.*11C>T
ENST00000376480.7:c.*11C>T (NPPA) MANE Select	ENSP00000365663.3:n.*11C>T
ENST00000610706.1:c.*5C>T (NPPA)	ENSP00000483195.1:n.*5C>T
NM_006172.3:c.*11C>T , LRG_751t1:c.*11C>T (NPPA)	NP_006163.1:n.*11C>T
NR_037806.1:n.1479+232G>A (NPPA-AS1)
NM_006172.4:c.*11C>T (NPPA) MANE Select	NP_006163.1:n.*11C>T