Canonical Allele Identifier: CA564959522
Gene: CNOT6 HGNC NCBI

Linked Data

dbSNP Id: rs1432238759
gnomAD v2: 5-180005383-C-T
gnomAD v3: 5-180578383-C-T
gnomAD v4: 5-180578383-C-T
MyVariant Identifiers: chr5:g.180005383C>T (hg19) chr5:g.180578383C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.180578383C>T , CM000667.2:g.180578383C>T GRCh38
NC_000005.9:g.180005383C>T , CM000667.1:g.180005383C>T GRCh37
NC_000005.8:g.179937989C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393356.5:c.*4183C>T ENSP00000377024.1:n.*4183C>T
NM_001303241.1:c.*4183C>T NP_001290170.1:n.*4183C>T
NM_001303241.2:c.*4183C>T NP_001290170.1:n.*4183C>T
Search 100 bp 5'
Search 100 bp 3'