Canonical Allele Identifier: CA384684857
Community Standard Title: NM_003482.4(KMT2D):c.15781C>T (p.Gln5261Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026185G>A , CM000674.2:g.49026185G>A GRCh38
NC_000012.11:g.49419968G>A , CM000674.1:g.49419968G>A GRCh37
NC_000012.10:g.47706235G>A NCBI36
NG_027827.1:g.34140C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15781C>T MANE Select NP_003473.3:p.Gln5261Ter
ENST00000301067.12:c.15781C>T MANE Select ENSP00000301067.7:p.Gln5261Ter
NM_003482.3:c.15781C>T NP_003473.3:p.Gln5261Ter
ENST00000301067.11:c.15781C>T ENSP00000301067.7:p.Gln5261Ter
ENST00000683543.2:c.15781C>T ENSP00000506726.1:p.Gln5261Ter
ENST00000683863.1:n.261C>T
ENST00000684428.1:c.316C>T ENSP00000507433.1:p.Gln106Ter
ENST00000684755.1:n.316C>T
ENST00000685024.1:c.906C>T
ENST00000685166.1:c.15790C>T ENSP00000509386.1:p.Gln5264Ter
ENST00000688411.1:c.262-1239C>T ENSP00000510146.1:n.262-1239C>T
ENST00000691463.1:c.1167C>T ENSP00000510624.1:n.1167C>T
ENST00000692637.1:c.15778C>T ENSP00000509666.1:p.Gln5260Ter
XM_005269162.3:c.15781C>T XP_005269219.1:p.Gln5261Ter
XM_005269162.4:c.15781C>T XP_005269219.1:p.Gln5261Ter
XM_006719614.2:c.15790C>T XP_006719677.1:p.Gln5264Ter
XM_006719614.4:c.15790C>T XP_006719677.1:p.Gln5264Ter
XM_006719616.2:c.15778C>T XP_006719679.1:p.Gln5260Ter
XM_006719616.3:c.15778C>T XP_006719679.1:p.Gln5260Ter
XM_011538770.1:c.15790C>T XP_011537072.1:p.Gln5264Ter
XM_011538770.2:c.15790C>T XP_011537072.1:p.Gln5264Ter
XM_011538771.1:c.15787C>T XP_011537073.1:p.Gln5263Ter
XM_011538771.2:c.15787C>T XP_011537073.1:p.Gln5263Ter
XM_011538772.1:c.15781C>T XP_011537074.1:p.Gln5261Ter
XM_011538772.2:c.15781C>T XP_011537074.1:p.Gln5261Ter
XM_011538773.1:c.15778C>T XP_011537075.1:p.Gln5260Ter
XM_011538773.2:c.15778C>T XP_011537075.1:p.Gln5260Ter
XM_011538774.1:c.15769C>T XP_011537076.1:p.Gln5257Ter
XM_011538774.2:c.15769C>T XP_011537076.1:p.Gln5257Ter
XM_011538775.1:c.15724C>T XP_011537077.1:p.Gln5242Ter
XM_011538776.1:c.15697C>T XP_011537078.1:p.Gln5233Ter
XM_011538776.2:c.15697C>T XP_011537078.1:p.Gln5233Ter
XR_001748874.1:n.15962-1239C>T
XR_944740.1:n.16973-1239C>T