Canonical Allele Identifier: CA596976

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs758222804
• ExAC: 1:11906049 C / T
• gnomAD v2: 1-11906049-C-T
• gnomAD v4: 1-11845992-C-T
• MyVariant Identifiers: chr1:g.11906049C>T (hg19) ; chr1:g.11845992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845992C>T , CM000663.2:g.11845992C>T	GRCh38
NC_000001.10:g.11906049C>T , CM000663.1:g.11906049C>T	GRCh37
NC_000001.9:g.11828636C>T	NCBI36
NG_012926.1:g.6792G>A , LRG_751:g.6792G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+226C>T (CLCN6)	ENSP00000496938.1:n.*1961+226C>T
ENST00000446542.5:n.781+226C>T (NPPA-AS1)
ENST00000376476.1:c.*17G>A (NPPA)	ENSP00000365659.1:n.*17G>A
ENST00000376480.7:c.*17G>A (NPPA) MANE Select	ENSP00000365663.3:n.*17G>A
ENST00000610706.1:c.*11G>A (NPPA)	ENSP00000483195.1:n.*11G>A
NM_006172.3:c.*17G>A , LRG_751t1:c.*17G>A (NPPA)	NP_006163.1:n.*17G>A
NR_037806.1:n.1479+226C>T (NPPA-AS1)
NM_006172.4:c.*17G>A (NPPA) MANE Select	NP_006163.1:n.*17G>A