Canonical Allele Identifier: CA407772074
Community Standard Title: NM_014516.4(CNOT3):c.2111T>C (p.Met704Thr)
Gene: CNOT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54153788T>C , CM000681.2:g.54153788T>C GRCh38
NC_000019.8:g.59349337T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014516.4:c.2111T>C MANE Select NP_055331.1:p.Met704Thr
ENST00000221232.11:c.2111T>C MANE Select ENSP00000221232.5:p.Met704Thr
NM_014516.3:c.2111T>C NP_055331.1:p.Met704Thr
ENST00000221232.9:c.2111T>C ENSP00000221232.5:p.Met704Thr
ENST00000358389.7:c.2111T>C ENSP00000351159.4:p.Met704Thr
ENST00000447684.5:c.*283T>C ENSP00000411587.2:n.*283T>C
ENST00000457463.1:c.705T>C
ENST00000471126.1:c.65T>C ENSP00000420064.1:p.Met22Thr
ENST00000496327.1:n.753T>C
ENST00000496327.2:c.753T>C
ENST00000613073.4:c.2353T>C
ENST00000617930.1:n.154T>C
ENST00000617930.2:c.*37T>C ENSP00000496602.1:n.*37T>C
ENST00000618939.4:n.2624T>C
ENST00000618939.5:n.2645T>C
ENST00000647082.1:c.506T>C
XM_005278279.1:c.2114T>C XP_005278336.1:p.Met705Thr
XM_005278279.2:c.2114T>C XP_005278336.1:p.Met705Thr
XM_005278280.2:c.2114T>C XP_005278337.1:p.Met705Thr
XM_005278281.1:c.2111T>C XP_005278338.1:p.Met704Thr
XM_005278281.2:c.2111T>C XP_005278338.1:p.Met704Thr
XM_005278282.1:c.2114T>C XP_005278339.1:p.Met705Thr
XM_005278282.3:c.2114T>C XP_005278339.1:p.Met705Thr
XM_011526992.1:c.2114T>C XP_011525294.1:p.Met705Thr
XM_011526992.2:c.2114T>C XP_011525294.1:p.Met705Thr
XR_002958318.1:n.2492T>C
XR_002958319.1:n.2479T>C
XR_254515.1:n.2518T>C
XR_254515.3:n.2489T>C
XR_254516.3:n.2518T>C