Canonical Allele Identifier: CA350569160

Gene: CNOT9

Linked Data

• gnomAD v4: 2-218584690-G-C
• MyVariant Identifiers: chr2:g.219449413G>C (hg19) ; chr2:g.218584690G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218584690G>C , CM000664.2:g.218584690G>C	GRCh38
NC_000002.11:g.219449413G>C , CM000664.1:g.219449413G>C	GRCh37
NC_000002.10:g.219157657G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000273064.11:c.399G>C MANE Select	ENSP00000273064.6:p.Glu133Asp
ENST00000273064.10:c.399G>C	ENSP00000273064.6:p.Glu133Asp
ENST00000295701.9:c.399G>C	ENSP00000295701.5:p.Glu133Asp
ENST00000542068.5:c.399G>C	ENSP00000443687.1:p.Glu133Asp
ENST00000627282.2:c.399G>C	ENSP00000486540.1:p.Glu133Asp
NM_001271634.1:c.399G>C	NP_001258563.1:p.Glu133Asp
NM_001271635.1:c.399G>C	NP_001258564.1:p.Glu133Asp
NM_005444.2:c.399G>C	NP_005435.1:p.Glu133Asp
NR_073390.1:n.695+1604G>C
XM_011512138.1:c.240G>C	XP_011510440.1:p.Glu80Asp
XM_011512138.3:c.240G>C	XP_011510440.1:p.Glu80Asp
XM_017005248.1:c.237G>C	XP_016860737.1:p.Glu79Asp
XM_017005249.2:c.240G>C	XP_016860738.1:p.Glu80Asp
NM_001271634.2:c.399G>C	NP_001258563.1:p.Glu133Asp
NM_005444.3:c.399G>C MANE Select	NP_005435.1:p.Glu133Asp
NR_073390.2:n.436+1604G>C
NM_001271635.2:c.399G>C	NP_001258564.1:p.Glu133Asp