Canonical Allele Identifier: CA596975

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs752551489
• ExAC: 1:11906046 G / T
• gnomAD v2: 1-11906046-G-T
• gnomAD v4: 1-11845989-G-T
• MyVariant Identifiers: chr1:g.11906046G>T (hg19) ; chr1:g.11845989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845989G>T , CM000663.2:g.11845989G>T	GRCh38
NC_000001.10:g.11906046G>T , CM000663.1:g.11906046G>T	GRCh37
NC_000001.9:g.11828633G>T	NCBI36
NG_012926.1:g.6795C>A , LRG_751:g.6795C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+223G>T (CLCN6)	ENSP00000496938.1:n.*1961+223G>T
ENST00000446542.5:n.781+223G>T (NPPA-AS1)
ENST00000376476.1:c.*20C>A (NPPA)	ENSP00000365659.1:n.*20C>A
ENST00000376480.7:c.*20C>A (NPPA) MANE Select	ENSP00000365663.3:n.*20C>A
ENST00000610706.1:c.*14C>A (NPPA)	ENSP00000483195.1:n.*14C>A
NM_006172.3:c.*20C>A , LRG_751t1:c.*20C>A (NPPA)	NP_006163.1:n.*20C>A
NR_037806.1:n.1479+223G>T (NPPA-AS1)
NM_006172.4:c.*20C>A (NPPA) MANE Select	NP_006163.1:n.*20C>A