Canonical Allele Identifier: CA18010025

Linked Data

dbSNP Id: rs913225867
gnomAD v2: 1-11905994-A-C
gnomAD v3: 1-11845937-A-C
gnomAD v4: 1-11845937-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845937A>C , CM000663.2:g.11845937A>C GRCh38
NC_000001.10:g.11905994A>C , CM000663.1:g.11905994A>C GRCh37
NC_000001.9:g.11828581A>C NCBI36
NG_012926.1:g.6847T>G , LRG_751:g.6847T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+171A>C (CLCN6) ENSP00000496938.1:n.*1961+171A>C
ENST00000446542.5:n.781+171A>C (NPPA-AS1)
ENST00000376476.1:c.*72T>G (NPPA) ENSP00000365659.1:n.*72T>G
ENST00000376480.7:c.*72T>G (NPPA) MANE Select ENSP00000365663.3:n.*72T>G
ENST00000610706.1:c.*66T>G (NPPA) ENSP00000483195.1:n.*66T>G
NM_006172.3:c.*72T>G , LRG_751t1:c.*72T>G (NPPA) NP_006163.1:n.*72T>G
NR_037806.1:n.1479+171A>C (NPPA-AS1)
NM_006172.4:c.*72T>G (NPPA) MANE Select NP_006163.1:n.*72T>G