Canonical Allele Identifier: CA384696967

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49029075C>T , CM000674.2:g.49029075C>T	GRCh38
NC_000012.11:g.49422858C>T , CM000674.1:g.49422858C>T	GRCh37
NC_000012.10:g.47709125C>T	NCBI36
NG_027827.1:g.31250G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14237G>A MANE Select	NP_003473.3:p.Arg4746Gln
ENST00000301067.12:c.14237G>A MANE Select	ENSP00000301067.7:p.Arg4746Gln
NM_003482.3:c.14237G>A	NP_003473.3:p.Arg4746Gln
ENST00000301067.11:c.14237G>A	ENSP00000301067.7:p.Arg4746Gln
ENST00000683543.2:c.14237G>A	ENSP00000506726.1:p.Arg4746Gln
ENST00000685166.1:c.14246G>A	ENSP00000509386.1:p.Arg4749Gln
ENST00000685979.1:c.500G>A	ENSP00000508906.1:p.Arg167Gln
ENST00000686564.1:c.497G>A	ENSP00000509290.1:p.Arg166Gln
ENST00000687241.1:c.329G>A	ENSP00000509842.1:p.Arg110Gln
ENST00000691986.1:c.536G>A	ENSP00000509196.1:p.Arg179Gln
ENST00000692637.1:c.14234G>A	ENSP00000509666.1:p.Arg4745Gln
XM_005269162.3:c.14237G>A	XP_005269219.1:p.Arg4746Gln
XM_005269162.4:c.14237G>A	XP_005269219.1:p.Arg4746Gln
XM_006719614.2:c.14246G>A	XP_006719677.1:p.Arg4749Gln
XM_006719614.4:c.14246G>A	XP_006719677.1:p.Arg4749Gln
XM_006719616.2:c.14234G>A	XP_006719679.1:p.Arg4745Gln
XM_006719616.3:c.14234G>A	XP_006719679.1:p.Arg4745Gln
XM_011538770.1:c.14246G>A	XP_011537072.1:p.Arg4749Gln
XM_011538770.2:c.14246G>A	XP_011537072.1:p.Arg4749Gln
XM_011538771.1:c.14243G>A	XP_011537073.1:p.Arg4748Gln
XM_011538771.2:c.14243G>A	XP_011537073.1:p.Arg4748Gln
XM_011538772.1:c.14237G>A	XP_011537074.1:p.Arg4746Gln
XM_011538772.2:c.14237G>A	XP_011537074.1:p.Arg4746Gln
XM_011538773.1:c.14234G>A	XP_011537075.1:p.Arg4745Gln
XM_011538773.2:c.14234G>A	XP_011537075.1:p.Arg4745Gln
XM_011538774.1:c.14225G>A	XP_011537076.1:p.Arg4742Gln
XM_011538774.2:c.14225G>A	XP_011537076.1:p.Arg4742Gln
XM_011538775.1:c.14180G>A	XP_011537077.1:p.Arg4727Gln
XM_011538776.1:c.14153G>A	XP_011537078.1:p.Arg4718Gln
XM_011538776.2:c.14153G>A	XP_011537078.1:p.Arg4718Gln
XR_001748874.1:n.15555G>A
XR_944740.1:n.16566G>A