Canonical Allele Identifier: CA596981

Linked Data

dbSNP Id: rs750164277
gnomAD v2: 1-11906063-T-C
gnomAD v4: 1-11846006-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846006T>C , CM000663.2:g.11846006T>C GRCh38
NC_000001.10:g.11906063T>C , CM000663.1:g.11906063T>C GRCh37
NC_000001.9:g.11828650T>C NCBI36
NG_012926.1:g.6778A>G , LRG_751:g.6778A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+240T>C (CLCN6) ENSP00000496938.1:n.*1961+240T>C
ENST00000446542.5:n.781+240T>C (NPPA-AS1)
ENST00000376476.1:c.*3A>G (NPPA) ENSP00000365659.1:n.*3A>G
ENST00000376480.7:c.*3A>G (NPPA) MANE Select ENSP00000365663.3:n.*3A>G
ENST00000610706.1:c.456A>G (NPPA) ENSP00000483195.1:p.Arg152=
NM_006172.3:c.*3A>G , LRG_751t1:c.*3A>G (NPPA) NP_006163.1:n.*3A>G
NR_037806.1:n.1479+240T>C (NPPA-AS1)
NM_006172.4:c.*3A>G (NPPA) MANE Select NP_006163.1:n.*3A>G