Canonical Allele Identifier: CA2107694

Gene: CNOT9

Linked Data

• dbSNP Id: rs148321797
• ExAC: 2:219449348 G / A
• gnomAD v2: 2-219449348-G-A
• gnomAD v3: 2-218584625-G-A
• gnomAD v4: 2-218584625-G-A
• MyVariant Identifiers: chr2:g.219449348G>A (hg19) ; chr2:g.218584625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218584625G>A , CM000664.2:g.218584625G>A	GRCh38
NC_000002.11:g.219449348G>A , CM000664.1:g.219449348G>A	GRCh37
NC_000002.10:g.219157592G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273064.11:c.334G>A MANE Select	ENSP00000273064.6:p.Ala112Thr
ENST00000273064.10:c.334G>A	ENSP00000273064.6:p.Ala112Thr
ENST00000295701.9:c.334G>A	ENSP00000295701.5:p.Ala112Thr
ENST00000432877.5:c.*226G>A	ENSP00000392394.1:n.*226G>A
ENST00000542068.5:c.334G>A	ENSP00000443687.1:p.Ala112Thr
ENST00000627282.2:c.334G>A	ENSP00000486540.1:p.Ala112Thr
NM_001271634.1:c.334G>A	NP_001258563.1:p.Ala112Thr
NM_001271635.1:c.334G>A	NP_001258564.1:p.Ala112Thr
NM_005444.2:c.334G>A	NP_005435.1:p.Ala112Thr
NR_073390.1:n.695+1539G>A
XM_011512138.1:c.175G>A	XP_011510440.1:p.Ala59Thr
XM_011512138.3:c.175G>A	XP_011510440.1:p.Ala59Thr
XM_017005248.1:c.172G>A	XP_016860737.1:p.Ala58Thr
XM_017005249.2:c.175G>A	XP_016860738.1:p.Ala59Thr
NM_001271634.2:c.334G>A	NP_001258563.1:p.Ala112Thr
NM_005444.3:c.334G>A MANE Select	NP_005435.1:p.Ala112Thr
NR_073390.2:n.436+1539G>A
NM_001271635.2:c.334G>A	NP_001258564.1:p.Ala112Thr