Canonical Allele Identifier: CA2643310898

Linked Data

gnomAD v4: 1-11845824-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845824C>T , CM000663.2:g.11845824C>T GRCh38
NC_000001.10:g.11905881C>T , CM000663.1:g.11905881C>T GRCh37
NC_000001.9:g.11828468C>T NCBI36
NG_012926.1:g.6960G>A , LRG_751:g.6960G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+58C>T (CLCN6) ENSP00000496938.1:n.*1961+58C>T
ENST00000446542.5:n.781+58C>T (NPPA-AS1)
ENST00000376480.7:c.*185G>A (NPPA) MANE Select ENSP00000365663.3:n.*185G>A
ENST00000610706.1:c.*179G>A (NPPA) ENSP00000483195.1:n.*179G>A
NM_006172.3:c.*185G>A , LRG_751t1:c.*185G>A (NPPA) NP_006163.1:n.*185G>A
NR_037806.1:n.1479+58C>T (NPPA-AS1)
NM_006172.4:c.*185G>A (NPPA) MANE Select NP_006163.1:n.*185G>A