Canonical Allele Identifier: CA6546208

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032244C>T , CM000674.2:g.49032244C>T	GRCh38
NC_000012.11:g.49426027C>T , CM000674.1:g.49426027C>T	GRCh37
NC_000012.10:g.47712294C>T	NCBI36
NG_027827.1:g.28081G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12461G>A MANE Select	NP_003473.3:p.Gly4154Asp
ENST00000301067.12:c.12461G>A MANE Select	ENSP00000301067.7:p.Gly4154Asp
NM_003482.3:c.12461G>A	NP_003473.3:p.Gly4154Asp
ENST00000301067.11:c.12461G>A	ENSP00000301067.7:p.Gly4154Asp
ENST00000683543.2:c.12461G>A	ENSP00000506726.1:p.Gly4154Asp
ENST00000685166.1:c.12470G>A	ENSP00000509386.1:p.Gly4157Asp
ENST00000685554.1:c.1752+269G>A	ENSP00000508640.1:n.1752+269G>A
ENST00000692637.1:c.12458G>A	ENSP00000509666.1:p.Gly4153Asp
ENST00000692841.1:c.3940G>A	ENSP00000508711.1:n.3940G>A
XM_005269162.3:c.12461G>A	XP_005269219.1:p.Gly4154Asp
XM_005269162.4:c.12461G>A	XP_005269219.1:p.Gly4154Asp
XM_006719614.2:c.12470G>A	XP_006719677.1:p.Gly4157Asp
XM_006719614.4:c.12470G>A	XP_006719677.1:p.Gly4157Asp
XM_006719616.2:c.12458G>A	XP_006719679.1:p.Gly4153Asp
XM_006719616.3:c.12458G>A	XP_006719679.1:p.Gly4153Asp
XM_011538770.1:c.12470G>A	XP_011537072.1:p.Gly4157Asp
XM_011538770.2:c.12470G>A	XP_011537072.1:p.Gly4157Asp
XM_011538771.1:c.12467G>A	XP_011537073.1:p.Gly4156Asp
XM_011538771.2:c.12467G>A	XP_011537073.1:p.Gly4156Asp
XM_011538772.1:c.12461G>A	XP_011537074.1:p.Gly4154Asp
XM_011538772.2:c.12461G>A	XP_011537074.1:p.Gly4154Asp
XM_011538773.1:c.12458G>A	XP_011537075.1:p.Gly4153Asp
XM_011538773.2:c.12458G>A	XP_011537075.1:p.Gly4153Asp
XM_011538774.1:c.12449G>A	XP_011537076.1:p.Gly4150Asp
XM_011538774.2:c.12449G>A	XP_011537076.1:p.Gly4150Asp
XM_011538775.1:c.12470G>A	XP_011537077.1:p.Gly4157Asp
XM_011538776.1:c.12377G>A	XP_011537078.1:p.Gly4126Asp
XM_011538776.2:c.12377G>A	XP_011537078.1:p.Gly4126Asp
XR_001748874.1:n.13779G>A
XR_944740.1:n.14790G>A