Canonical Allele Identifier: CA998631336

Linked Data

dbSNP Id: rs1645067114
gnomAD v3: 1-11846189-A-G
gnomAD v4: 1-11846189-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846189A>G , CM000663.2:g.11846189A>G GRCh38
NC_000001.10:g.11906246A>G , CM000663.1:g.11906246A>G GRCh37
NC_000001.9:g.11828833A>G NCBI36
NG_012926.1:g.6595T>C , LRG_751:g.6595T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+423A>G (CLCN6) ENSP00000496938.1:n.*1961+423A>G
ENST00000446542.5:n.781+423A>G (NPPA-AS1)
ENST00000376476.1:c.301-175T>C (NPPA) ENSP00000365659.1:n.301-175T>C
ENST00000376480.7:c.451-175T>C (NPPA) MANE Select ENSP00000365663.3:n.451-175T>C
ENST00000610706.1:c.451-175T>C (NPPA) ENSP00000483195.1:n.451-175T>C
NM_006172.3:c.451-175T>C , LRG_751t1:c.451-175T>C (NPPA) NP_006163.1:n.451-175T>C
NR_037806.1:n.1479+423A>G (NPPA-AS1)
NM_006172.4:c.451-175T>C (NPPA) MANE Select NP_006163.1:n.451-175T>C