Canonical Allele Identifier: CA384712665

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032515C>T , CM000674.2:g.49032515C>T	GRCh38
NC_000012.11:g.49426298C>T , CM000674.1:g.49426298C>T	GRCh37
NC_000012.10:g.47712565C>T	NCBI36
NG_027827.1:g.27810G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12190G>A MANE Select	NP_003473.3:p.Glu4064Lys
ENST00000301067.12:c.12190G>A MANE Select	ENSP00000301067.7:p.Glu4064Lys
NM_003482.3:c.12190G>A	NP_003473.3:p.Glu4064Lys
ENST00000301067.11:c.12190G>A	ENSP00000301067.7:p.Glu4064Lys
ENST00000683543.2:c.12190G>A	ENSP00000506726.1:p.Glu4064Lys
ENST00000685166.1:c.12199G>A	ENSP00000509386.1:p.Glu4067Lys
ENST00000685554.1:c.1750G>A	ENSP00000508640.1:p.Glu584Lys
ENST00000687201.1:c.3769G>A	ENSP00000510037.1:p.Glu1257Lys
ENST00000692637.1:c.12187G>A	ENSP00000509666.1:p.Glu4063Lys
ENST00000692841.1:c.3669G>A	ENSP00000508711.1:n.3669G>A
XM_005269162.3:c.12190G>A	XP_005269219.1:p.Glu4064Lys
XM_005269162.4:c.12190G>A	XP_005269219.1:p.Glu4064Lys
XM_006719614.2:c.12199G>A	XP_006719677.1:p.Glu4067Lys
XM_006719614.4:c.12199G>A	XP_006719677.1:p.Glu4067Lys
XM_006719616.2:c.12187G>A	XP_006719679.1:p.Glu4063Lys
XM_006719616.3:c.12187G>A	XP_006719679.1:p.Glu4063Lys
XM_011538770.1:c.12199G>A	XP_011537072.1:p.Glu4067Lys
XM_011538770.2:c.12199G>A	XP_011537072.1:p.Glu4067Lys
XM_011538771.1:c.12196G>A	XP_011537073.1:p.Glu4066Lys
XM_011538771.2:c.12196G>A	XP_011537073.1:p.Glu4066Lys
XM_011538772.1:c.12190G>A	XP_011537074.1:p.Glu4064Lys
XM_011538772.2:c.12190G>A	XP_011537074.1:p.Glu4064Lys
XM_011538773.1:c.12187G>A	XP_011537075.1:p.Glu4063Lys
XM_011538773.2:c.12187G>A	XP_011537075.1:p.Glu4063Lys
XM_011538774.1:c.12178G>A	XP_011537076.1:p.Glu4060Lys
XM_011538774.2:c.12178G>A	XP_011537076.1:p.Glu4060Lys
XM_011538775.1:c.12199G>A	XP_011537077.1:p.Glu4067Lys
XM_011538776.1:c.12106G>A	XP_011537078.1:p.Glu4036Lys
XM_011538776.2:c.12106G>A	XP_011537078.1:p.Glu4036Lys
XR_001748874.1:n.13508G>A
XR_944740.1:n.14519G>A