Canonical Allele Identifier: CA350569008

Gene: CNOT9

Linked Data

• gnomAD v4: 2-218584622-C-A
• MyVariant Identifiers: chr2:g.219449345C>A (hg19) ; chr2:g.218584622C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218584622C>A , CM000664.2:g.218584622C>A	GRCh38
NC_000002.11:g.219449345C>A , CM000664.1:g.219449345C>A	GRCh37
NC_000002.10:g.219157589C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273064.11:c.331C>A MANE Select	ENSP00000273064.6:p.Leu111Ile
ENST00000273064.10:c.331C>A	ENSP00000273064.6:p.Leu111Ile
ENST00000295701.9:c.331C>A	ENSP00000295701.5:p.Leu111Ile
ENST00000432877.5:c.*223C>A	ENSP00000392394.1:n.*223C>A
ENST00000542068.5:c.331C>A	ENSP00000443687.1:p.Leu111Ile
ENST00000627282.2:c.331C>A	ENSP00000486540.1:p.Leu111Ile
NM_001271634.1:c.331C>A	NP_001258563.1:p.Leu111Ile
NM_001271635.1:c.331C>A	NP_001258564.1:p.Leu111Ile
NM_005444.2:c.331C>A	NP_005435.1:p.Leu111Ile
NR_073390.1:n.695+1536C>A
XM_011512138.1:c.172C>A	XP_011510440.1:p.Leu58Ile
XM_011512138.3:c.172C>A	XP_011510440.1:p.Leu58Ile
XM_017005248.1:c.169C>A	XP_016860737.1:p.Leu57Ile
XM_017005249.2:c.172C>A	XP_016860738.1:p.Leu58Ile
NM_001271634.2:c.331C>A	NP_001258563.1:p.Leu111Ile
NM_005444.3:c.331C>A MANE Select	NP_005435.1:p.Leu111Ile
NR_073390.2:n.436+1536C>A
NM_001271635.2:c.331C>A	NP_001258564.1:p.Leu111Ile