Canonical Allele Identifier: CA6545410

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022714C>T , CM000674.2:g.49022714C>T	GRCh38
NC_000012.11:g.49416497C>T , CM000674.1:g.49416497C>T	GRCh37
NC_000012.10:g.47702764C>T	NCBI36
NG_027827.1:g.37611G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16214G>A MANE Select	NP_003473.3:p.Arg5405His
ENST00000301067.12:c.16214G>A MANE Select	ENSP00000301067.7:p.Arg5405His
NM_003482.3:c.16214G>A	NP_003473.3:p.Arg5405His
ENST00000301067.11:c.16214G>A	ENSP00000301067.7:p.Arg5405His
ENST00000526209.1:c.257G>A	ENSP00000435714.1:p.Arg86His
ENST00000526209.2:c.184G>A
ENST00000681974.1:n.886G>A
ENST00000682693.1:n.1848G>A
ENST00000682886.1:n.384G>A
ENST00000683543.2:c.16262G>A	ENSP00000506726.1:p.Arg5421His
ENST00000683988.1:c.185G>A	ENSP00000506939.1:p.Arg62His
ENST00000684428.1:c.749G>A	ENSP00000507433.1:p.Arg250His
ENST00000684755.1:n.797G>A
ENST00000685024.1:c.1368G>A
ENST00000685166.1:c.16223G>A	ENSP00000509386.1:p.Arg5408His
ENST00000688411.1:c.691G>A	ENSP00000510146.1:n.691G>A
ENST00000691932.1:c.215G>A	ENSP00000509037.1:p.Arg72His
ENST00000692637.1:c.16211G>A	ENSP00000509666.1:p.Arg5404His
XM_005269162.3:c.16214G>A	XP_005269219.1:p.Arg5405His
XM_005269162.4:c.16214G>A	XP_005269219.1:p.Arg5405His
XM_006719614.2:c.16223G>A	XP_006719677.1:p.Arg5408His
XM_006719614.4:c.16223G>A	XP_006719677.1:p.Arg5408His
XM_006719616.2:c.16211G>A	XP_006719679.1:p.Arg5404His
XM_006719616.3:c.16211G>A	XP_006719679.1:p.Arg5404His
XM_011538770.1:c.16271G>A	XP_011537072.1:p.Arg5424His
XM_011538770.2:c.16271G>A	XP_011537072.1:p.Arg5424His
XM_011538771.1:c.16268G>A	XP_011537073.1:p.Arg5423His
XM_011538771.2:c.16268G>A	XP_011537073.1:p.Arg5423His
XM_011538772.1:c.16262G>A	XP_011537074.1:p.Arg5421His
XM_011538772.2:c.16262G>A	XP_011537074.1:p.Arg5421His
XM_011538773.1:c.16259G>A	XP_011537075.1:p.Arg5420His
XM_011538773.2:c.16259G>A	XP_011537075.1:p.Arg5420His
XM_011538774.1:c.16250G>A	XP_011537076.1:p.Arg5417His
XM_011538774.2:c.16250G>A	XP_011537076.1:p.Arg5417His
XM_011538775.1:c.16205G>A	XP_011537077.1:p.Arg5402His
XM_011538776.1:c.16178G>A	XP_011537078.1:p.Arg5393His
XM_011538776.2:c.16178G>A	XP_011537078.1:p.Arg5393His
XR_001748874.1:n.16391G>A