Canonical Allele Identifier: CA808412450

Gene: CNOT6

Linked Data

• dbSNP Id: rs115935546
• gnomAD v3: 5-180578250-G-A
• gnomAD v4: 5-180578250-G-A
• MyVariant Identifiers: chr5:g.180005250G>A (hg19) ; chr5:g.180578250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.180578250G>A , CM000667.2:g.180578250G>A	GRCh38
NC_000005.9:g.180005250G>A , CM000667.1:g.180005250G>A	GRCh37
NC_000005.8:g.179937856G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261951.9:c.*4050G>A MANE Select	ENSP00000261951.4:n.*4050G>A
ENST00000393356.7:c.*4050G>A	ENSP00000377024.1:n.*4050G>A
ENST00000261951.8:c.*4050G>A	ENSP00000261951.4:n.*4050G>A
ENST00000393356.5:c.*4050G>A	ENSP00000377024.1:n.*4050G>A
ENST00000618123.4:c.*4050G>A	ENSP00000481893.1:n.*4050G>A
NM_001303241.1:c.*4050G>A	NP_001290170.1:n.*4050G>A
XM_005265953.1:c.*4050G>A	XP_005266010.1:n.*4050G>A
XM_011534605.1:c.*4050G>A	XP_011532907.1:n.*4050G>A
XM_011534606.1:c.*4050G>A	XP_011532908.1:n.*4050G>A
XM_011534607.1:c.*4050G>A	XP_011532909.1:n.*4050G>A
XM_011534608.1:c.*4234G>A	XP_011532910.1:n.*4234G>A
XM_017009672.1:c.*4234G>A	XP_016865161.1:n.*4234G>A
XR_001742163.1:n.5935G>A
XR_001742164.1:n.5920G>A
NM_001303241.2:c.*4050G>A	NP_001290170.1:n.*4050G>A
NM_001370472.1:c.*4050G>A MANE Select	NP_001357401.1:n.*4050G>A
NM_001370473.1:c.*4050G>A	NP_001357402.1:n.*4050G>A
NM_001370474.1:c.*4050G>A	NP_001357403.1:n.*4050G>A
NR_163437.1:n.6215G>A
NR_163438.1:n.5956G>A