Canonical Allele Identifier: CA597134

Linked Data

ClinVar Variation Id: 537320
ClinVar RCV Id: RCV000646142
dbSNP Id: rs142653342
gnomAD v2: 1-11907719-G-A
gnomAD v3: 1-11847662-G-A
gnomAD v4: 1-11847662-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847662G>A , CM000663.2:g.11847662G>A GRCh38
NC_000001.10:g.11907719G>A , CM000663.1:g.11907719G>A GRCh37
NC_000001.9:g.11830306G>A NCBI36
NG_012926.1:g.5122C>T , LRG_751:g.5122C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*2047G>A (CLCN6) ENSP00000496938.1:n.*2047G>A
ENST00000446542.5:n.1010G>A (NPPA-AS1)
ENST00000376476.1:c.-27-223C>T (NPPA) ENSP00000365659.1:n.-27-223C>T
ENST00000376480.7:c.23C>T (NPPA) MANE Select ENSP00000365663.3:p.Thr8Ile
ENST00000610706.1:c.23C>T (NPPA) ENSP00000483195.1:p.Thr8Ile
NM_006172.3:c.23C>T , LRG_751t1:c.23C>T (NPPA) NP_006163.1:p.Thr8Ile
NM_006172.4:c.23C>T (NPPA) MANE Select NP_006163.1:p.Thr8Ile