Canonical Allele Identifier: CA2633585025

Gene: CNOT1

Linked Data

• ClinVar Variation Id: 2707705
• ClinVar RCV Id: RCV003545005
• gnomAD v4: 16-58537234-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58537234T>C , CM000678.2:g.58537234T>C	GRCh38
NC_000016.9:g.58571138T>C , CM000678.1:g.58571138T>C	GRCh37
NC_000016.8:g.57128639T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317147.10:c.5415-14A>G MANE Select	ENSP00000320949.5:n.5415-14A>G
ENST00000317147.9:c.5415-14A>G	ENSP00000320949.5:n.5415-14A>G
ENST00000567188.5:c.5400-14A>G	ENSP00000456649.1:n.5400-14A>G
ENST00000568917.1:c.534-14A>G	ENSP00000454611.1:n.534-14A>G
ENST00000569240.5:c.5400-14A>G	ENSP00000455635.1:n.5400-14A>G
NM_001265612.1:c.5400-14A>G	NP_001252541.1:n.5400-14A>G
NM_016284.4:c.5415-14A>G	NP_057368.3:n.5415-14A>G
NR_049763.1:n.5733-14A>G
NM_016284.5:c.5415-14A>G MANE Select	NP_057368.3:n.5415-14A>G
NM_001265612.2:c.5400-14A>G	NP_001252541.1:n.5400-14A>G
NR_049763.2:n.5673-14A>G