Canonical Allele Identifier: CA597040

Linked Data

ClinVar Variation Id: 449329
ClinVar RCV Id: RCV000522731
dbSNP Id: rs148193368
gnomAD v2: 1-11907341-A-C
gnomAD v3: 1-11847284-A-C
gnomAD v4: 1-11847284-A-C

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