Canonical Allele Identifier: CA236634483

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49027927C>T , CM000674.2:g.49027927C>T	GRCh38
NC_000012.11:g.49421710C>T , CM000674.1:g.49421710C>T	GRCh37
NC_000012.10:g.47707977C>T	NCBI36
NG_027827.1:g.32398G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14519G>A MANE Select	NP_003473.3:p.Gly4840Glu
ENST00000301067.12:c.14519G>A MANE Select	ENSP00000301067.7:p.Gly4840Glu
NM_003482.3:c.14519G>A	NP_003473.3:p.Gly4840Glu
ENST00000301067.11:c.14519G>A	ENSP00000301067.7:p.Gly4840Glu
ENST00000683543.2:c.14519G>A	ENSP00000506726.1:p.Gly4840Glu
ENST00000685166.1:c.14528G>A	ENSP00000509386.1:p.Gly4843Glu
ENST00000686151.1:n.94G>A
ENST00000687241.1:c.480G>A	ENSP00000509842.1:n.480G>A
ENST00000688411.1:c.137G>A	ENSP00000510146.1:p.Gly46Glu
ENST00000691463.1:c.137G>A	ENSP00000510624.1:p.Gly46Glu
ENST00000692637.1:c.14516G>A	ENSP00000509666.1:p.Gly4839Glu
XM_005269162.3:c.14519G>A	XP_005269219.1:p.Gly4840Glu
XM_005269162.4:c.14519G>A	XP_005269219.1:p.Gly4840Glu
XM_006719614.2:c.14528G>A	XP_006719677.1:p.Gly4843Glu
XM_006719614.4:c.14528G>A	XP_006719677.1:p.Gly4843Glu
XM_006719616.2:c.14516G>A	XP_006719679.1:p.Gly4839Glu
XM_006719616.3:c.14516G>A	XP_006719679.1:p.Gly4839Glu
XM_011538770.1:c.14528G>A	XP_011537072.1:p.Gly4843Glu
XM_011538770.2:c.14528G>A	XP_011537072.1:p.Gly4843Glu
XM_011538771.1:c.14525G>A	XP_011537073.1:p.Gly4842Glu
XM_011538771.2:c.14525G>A	XP_011537073.1:p.Gly4842Glu
XM_011538772.1:c.14519G>A	XP_011537074.1:p.Gly4840Glu
XM_011538772.2:c.14519G>A	XP_011537074.1:p.Gly4840Glu
XM_011538773.1:c.14516G>A	XP_011537075.1:p.Gly4839Glu
XM_011538773.2:c.14516G>A	XP_011537075.1:p.Gly4839Glu
XM_011538774.1:c.14507G>A	XP_011537076.1:p.Gly4836Glu
XM_011538774.2:c.14507G>A	XP_011537076.1:p.Gly4836Glu
XM_011538775.1:c.14462G>A	XP_011537077.1:p.Gly4821Glu
XM_011538776.1:c.14435G>A	XP_011537078.1:p.Gly4812Glu
XM_011538776.2:c.14435G>A	XP_011537078.1:p.Gly4812Glu
XR_001748874.1:n.15837G>A
XR_944740.1:n.16848G>A