Canonical Allele Identifier: CA350569139

Gene: CNOT9

Linked Data

• dbSNP Id: rs1694531742
• gnomAD v4: 2-218584680-G-A
• MyVariant Identifiers: chr2:g.219449403G>A (hg19) ; chr2:g.218584680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218584680G>A , CM000664.2:g.218584680G>A	GRCh38
NC_000002.11:g.219449403G>A , CM000664.1:g.219449403G>A	GRCh37
NC_000002.10:g.219157647G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273064.11:c.389G>A MANE Select	ENSP00000273064.6:p.Arg130His
ENST00000273064.10:c.389G>A	ENSP00000273064.6:p.Arg130His
ENST00000295701.9:c.389G>A	ENSP00000295701.5:p.Arg130His
ENST00000542068.5:c.389G>A	ENSP00000443687.1:p.Arg130His
ENST00000627282.2:c.389G>A	ENSP00000486540.1:p.Arg130His
NM_001271634.1:c.389G>A	NP_001258563.1:p.Arg130His
NM_001271635.1:c.389G>A	NP_001258564.1:p.Arg130His
NM_005444.2:c.389G>A	NP_005435.1:p.Arg130His
NR_073390.1:n.695+1594G>A
XM_011512138.1:c.230G>A	XP_011510440.1:p.Arg77His
XM_011512138.3:c.230G>A	XP_011510440.1:p.Arg77His
XM_017005248.1:c.227G>A	XP_016860737.1:p.Arg76His
XM_017005249.2:c.230G>A	XP_016860738.1:p.Arg77His
NM_001271634.2:c.389G>A	NP_001258563.1:p.Arg130His
NM_005444.3:c.389G>A MANE Select	NP_005435.1:p.Arg130His
NR_073390.2:n.436+1594G>A
NM_001271635.2:c.389G>A	NP_001258564.1:p.Arg130His