Canonical Allele Identifier: CA597040

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• ClinVar Variation Id: 449329
• ClinVar RCV Id: RCV000522731 ; RCV003631128
• dbSNP Id: rs148193368
• ExAC: 1:11907341 A / C
• gnomAD v2: 1-11907341-A-C
• gnomAD v3: 1-11847284-A-C
• gnomAD v4: 1-11847284-A-C
• MyVariant Identifiers: chr1:g.11907341A>C (hg19) ; chr1:g.11907341_11907343delinsCTC (hg19) ; chr1:g.11847284A>C (hg38) ; chr1:g.11847284_11847286delinsCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847284A>C , CM000663.2:g.11847284A>C	GRCh38
NC_000001.10:g.11907341A>C , CM000663.1:g.11907341A>C	GRCh37
NC_000001.9:g.11829928A>C	NCBI36
NG_012926.1:g.5500T>G , LRG_751:g.5500T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-293A>C (CLCN6)	ENSP00000496938.1:n.*1962-293A>C
ENST00000446542.5:n.782-150A>C (NPPA-AS1)
ENST00000376476.1:c.129T>G (NPPA)	ENSP00000365659.1:p.Asp43Glu
ENST00000376480.7:c.279T>G (NPPA) MANE Select	ENSP00000365663.3:p.Asp93Glu
ENST00000610706.1:c.279T>G (NPPA)	ENSP00000483195.1:p.Asp93Glu
NM_006172.3:c.279T>G , LRG_751t1:c.279T>G (NPPA)	NP_006163.1:p.Asp93Glu
NR_037806.1:n.1480-150A>C (NPPA-AS1)
NM_006172.4:c.279T>G (NPPA) MANE Select	NP_006163.1:p.Asp93Glu