Canonical Allele Identifier: CA2034946638

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033087A= , CM000674.2:g.49033087A=	GRCh38
NC_000012.11:g.49426870A= , CM000674.1:g.49426870A=	GRCh37
NC_000012.10:g.47713137A=	NCBI36
NG_027827.1:g.27238T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11618T=	ENSP00000506726.1:p.Leu3873=
ENST00000685166.1:c.11627T=	ENSP00000509386.1:p.Leu3876=
ENST00000685554.1:c.1178T=	ENSP00000508640.1:p.Leu393=
ENST00000687201.1:c.3197T=	ENSP00000510037.1:p.Leu1066=
ENST00000692637.1:c.11615T=	ENSP00000509666.1:p.Leu3872=
ENST00000692841.1:c.3097T=	ENSP00000508711.1:n.3097T=
ENST00000301067.12:c.11618T= MANE Select	ENSP00000301067.7:p.Leu3873=
ENST00000301067.11:c.11618T=	ENSP00000301067.7:p.Leu3873=
NM_003482.3:c.11618T=	NP_003473.3:p.Leu3873=
XM_005269162.3:c.11618T=	XP_005269219.1:p.Leu3873=
XM_006719614.2:c.11627T=	XP_006719677.1:p.Leu3876=
XM_006719616.2:c.11615T=	XP_006719679.1:p.Leu3872=
XM_011538770.1:c.11627T=	XP_011537072.1:p.Leu3876=
XM_011538771.1:c.11624T=	XP_011537073.1:p.Leu3875=
XM_011538772.1:c.11618T=	XP_011537074.1:p.Leu3873=
XM_011538773.1:c.11615T=	XP_011537075.1:p.Leu3872=
XM_011538774.1:c.11606T=	XP_011537076.1:p.Leu3869=
XM_011538775.1:c.11627T=	XP_011537077.1:p.Leu3876=
XM_011538776.1:c.11534T=	XP_011537078.1:p.Leu3845=
XR_944740.1:n.13947T=
XM_005269162.4:c.11618T=	XP_005269219.1:p.Leu3873=
XM_006719614.4:c.11627T=	XP_006719677.1:p.Leu3876=
XM_006719616.3:c.11615T=	XP_006719679.1:p.Leu3872=
XM_011538770.2:c.11627T=	XP_011537072.1:p.Leu3876=
XM_011538771.2:c.11624T=	XP_011537073.1:p.Leu3875=
XM_011538772.2:c.11618T=	XP_011537074.1:p.Leu3873=
XM_011538773.2:c.11615T=	XP_011537075.1:p.Leu3872=
XM_011538774.2:c.11606T=	XP_011537076.1:p.Leu3869=
XM_011538776.2:c.11534T=	XP_011537078.1:p.Leu3845=
XR_001748874.1:n.12936T=
NM_003482.4:c.11618T= MANE Select	NP_003473.3:p.Leu3873=