Canonical Allele Identifier: CA6547841

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49046625C>A , CM000674.2:g.49046625C>A	GRCh38
NC_000012.11:g.49440408C>A , CM000674.1:g.49440408C>A	GRCh37
NC_000012.10:g.47726675C>A	NCBI36
NG_027827.1:g.13700G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.4402G>T MANE Select	NP_003473.3:p.Gly1468Cys
ENST00000301067.12:c.4402G>T MANE Select	ENSP00000301067.7:p.Gly1468Cys
NM_003482.3:c.4402G>T	NP_003473.3:p.Gly1468Cys
ENST00000301067.11:c.4402G>T	ENSP00000301067.7:p.Gly1468Cys
ENST00000683543.2:c.4402G>T	ENSP00000506726.1:p.Gly1468Cys
ENST00000685166.1:c.4402G>T	ENSP00000509386.1:p.Gly1468Cys
ENST00000688095.1:c.382G>T	ENSP00000510007.1:p.Gly128Cys
ENST00000692637.1:c.4399G>T	ENSP00000509666.1:p.Gly1467Cys
XM_005269162.3:c.4402G>T	XP_005269219.1:p.Gly1468Cys
XM_005269162.4:c.4402G>T	XP_005269219.1:p.Gly1468Cys
XM_006719614.2:c.4402G>T	XP_006719677.1:p.Gly1468Cys
XM_006719614.4:c.4402G>T	XP_006719677.1:p.Gly1468Cys
XM_006719616.2:c.4399G>T	XP_006719679.1:p.Gly1467Cys
XM_006719616.3:c.4399G>T	XP_006719679.1:p.Gly1467Cys
XM_011538770.1:c.4402G>T	XP_011537072.1:p.Gly1468Cys
XM_011538770.2:c.4402G>T	XP_011537072.1:p.Gly1468Cys
XM_011538771.1:c.4399G>T	XP_011537073.1:p.Gly1467Cys
XM_011538771.2:c.4399G>T	XP_011537073.1:p.Gly1467Cys
XM_011538772.1:c.4402G>T	XP_011537074.1:p.Gly1468Cys
XM_011538772.2:c.4402G>T	XP_011537074.1:p.Gly1468Cys
XM_011538773.1:c.4399G>T	XP_011537075.1:p.Gly1467Cys
XM_011538773.2:c.4399G>T	XP_011537075.1:p.Gly1467Cys
XM_011538774.1:c.4402G>T	XP_011537076.1:p.Gly1468Cys
XM_011538774.2:c.4402G>T	XP_011537076.1:p.Gly1468Cys
XM_011538775.1:c.4402G>T	XP_011537077.1:p.Gly1468Cys
XM_011538776.1:c.4402G>T	XP_011537078.1:p.Gly1468Cys
XM_011538776.2:c.4402G>T	XP_011537078.1:p.Gly1468Cys
XR_001748874.1:n.5711G>T
XR_944740.1:n.6722G>T