Canonical Allele Identifier: CA596973

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs759323115
• ExAC: 1:11906028 C / T
• gnomAD v2: 1-11906028-C-T
• gnomAD v3: 1-11845971-C-T
• gnomAD v4: 1-11845971-C-T
• MyVariant Identifiers: chr1:g.11906028C>T (hg19) ; chr1:g.11845971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845971C>T , CM000663.2:g.11845971C>T	GRCh38
NC_000001.10:g.11906028C>T , CM000663.1:g.11906028C>T	GRCh37
NC_000001.9:g.11828615C>T	NCBI36
NG_012926.1:g.6813G>A , LRG_751:g.6813G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+205C>T (CLCN6)	ENSP00000496938.1:n.*1961+205C>T
ENST00000446542.5:n.781+205C>T (NPPA-AS1)
ENST00000376476.1:c.*38G>A (NPPA)	ENSP00000365659.1:n.*38G>A
ENST00000376480.7:c.*38G>A (NPPA) MANE Select	ENSP00000365663.3:n.*38G>A
ENST00000610706.1:c.*32G>A (NPPA)	ENSP00000483195.1:n.*32G>A
NM_006172.3:c.*38G>A , LRG_751t1:c.*38G>A (NPPA)	NP_006163.1:n.*38G>A
NR_037806.1:n.1479+205C>T (NPPA-AS1)
NM_006172.4:c.*38G>A (NPPA) MANE Select	NP_006163.1:n.*38G>A