Canonical Allele Identifier: CA18010100

Linked Data

dbSNP Id: rs1041575261
gnomAD v3: 1-11846082-T-C
gnomAD v4: 1-11846082-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846082T>C , CM000663.2:g.11846082T>C GRCh38
NC_000001.10:g.11906139T>C , CM000663.1:g.11906139T>C GRCh37
NC_000001.9:g.11828726T>C NCBI36
NG_012926.1:g.6702A>G , LRG_751:g.6702A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+316T>C (CLCN6) ENSP00000496938.1:n.*1961+316T>C
ENST00000446542.5:n.781+316T>C (NPPA-AS1)
ENST00000376476.1:c.301-68A>G (NPPA) ENSP00000365659.1:n.301-68A>G
ENST00000376480.7:c.451-68A>G (NPPA) MANE Select ENSP00000365663.3:n.451-68A>G
ENST00000610706.1:c.451-68A>G (NPPA) ENSP00000483195.1:n.451-68A>G
NM_006172.3:c.451-68A>G , LRG_751t1:c.451-68A>G (NPPA) NP_006163.1:n.451-68A>G
NR_037806.1:n.1479+316T>C (NPPA-AS1)
NM_006172.4:c.451-68A>G (NPPA) MANE Select NP_006163.1:n.451-68A>G