Canonical Allele Identifier: CA384736524
Community Standard Title: NM_003482.4(KMT2D):c.9730G>T (p.Glu3244Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49037626C>A , CM000674.2:g.49037626C>A GRCh38
NC_000012.11:g.49431409C>A , CM000674.1:g.49431409C>A GRCh37
NC_000012.10:g.47717676C>A NCBI36
NG_027827.1:g.22699G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.9730G>T MANE Select NP_003473.3:p.Glu3244Ter
ENST00000301067.12:c.9730G>T MANE Select ENSP00000301067.7:p.Glu3244Ter
NM_003482.3:c.9730G>T NP_003473.3:p.Glu3244Ter
ENST00000301067.11:c.9730G>T ENSP00000301067.7:p.Glu3244Ter
ENST00000683043.1:n.1429G>T
ENST00000683543.2:c.9730G>T ENSP00000506726.1:p.Glu3244Ter
ENST00000685166.1:c.9739G>T ENSP00000509386.1:p.Glu3247Ter
ENST00000687201.1:c.1294G>T ENSP00000510037.1:p.Glu432Ter
ENST00000689143.1:c.3333G>T ENSP00000509839.1:n.3333G>T
ENST00000692637.1:c.9727G>T ENSP00000509666.1:p.Glu3243Ter
ENST00000692841.1:c.1294G>T ENSP00000508711.1:p.Glu432Ter
XM_005269162.3:c.9730G>T XP_005269219.1:p.Glu3244Ter
XM_005269162.4:c.9730G>T XP_005269219.1:p.Glu3244Ter
XM_006719614.2:c.9739G>T XP_006719677.1:p.Glu3247Ter
XM_006719614.4:c.9739G>T XP_006719677.1:p.Glu3247Ter
XM_006719616.2:c.9727G>T XP_006719679.1:p.Glu3243Ter
XM_006719616.3:c.9727G>T XP_006719679.1:p.Glu3243Ter
XM_011538770.1:c.9739G>T XP_011537072.1:p.Glu3247Ter
XM_011538770.2:c.9739G>T XP_011537072.1:p.Glu3247Ter
XM_011538771.1:c.9736G>T XP_011537073.1:p.Glu3246Ter
XM_011538771.2:c.9736G>T XP_011537073.1:p.Glu3246Ter
XM_011538772.1:c.9730G>T XP_011537074.1:p.Glu3244Ter
XM_011538772.2:c.9730G>T XP_011537074.1:p.Glu3244Ter
XM_011538773.1:c.9727G>T XP_011537075.1:p.Glu3243Ter
XM_011538773.2:c.9727G>T XP_011537075.1:p.Glu3243Ter
XM_011538774.1:c.9718G>T XP_011537076.1:p.Glu3240Ter
XM_011538774.2:c.9718G>T XP_011537076.1:p.Glu3240Ter
XM_011538775.1:c.9739G>T XP_011537077.1:p.Glu3247Ter
XM_011538776.1:c.9646G>T XP_011537078.1:p.Glu3216Ter
XM_011538776.2:c.9646G>T XP_011537078.1:p.Glu3216Ter
XR_001748874.1:n.11048G>T
XR_944740.1:n.12059G>T