Canonical Allele Identifier: CA2034946625

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033047C= , CM000674.2:g.49033047C=	GRCh38
NC_000012.11:g.49426830C= , CM000674.1:g.49426830C=	GRCh37
NC_000012.10:g.47713097C=	NCBI36
NG_027827.1:g.27278G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11658G=	ENSP00000506726.1:p.Gln3886=
ENST00000685166.1:c.11667G=	ENSP00000509386.1:p.Gln3889=
ENST00000685554.1:c.1218G=	ENSP00000508640.1:p.Gln406=
ENST00000687201.1:c.3237G=	ENSP00000510037.1:p.Gln1079=
ENST00000692637.1:c.11655G=	ENSP00000509666.1:p.Gln3885=
ENST00000692841.1:c.3137G=	ENSP00000508711.1:n.3137G=
ENST00000301067.12:c.11658G= MANE Select	ENSP00000301067.7:p.Gln3886=
ENST00000301067.11:c.11658G=	ENSP00000301067.7:p.Gln3886=
NM_003482.3:c.11658G=	NP_003473.3:p.Gln3886=
XM_005269162.3:c.11658G=	XP_005269219.1:p.Gln3886=
XM_006719614.2:c.11667G=	XP_006719677.1:p.Gln3889=
XM_006719616.2:c.11655G=	XP_006719679.1:p.Gln3885=
XM_011538770.1:c.11667G=	XP_011537072.1:p.Gln3889=
XM_011538771.1:c.11664G=	XP_011537073.1:p.Gln3888=
XM_011538772.1:c.11658G=	XP_011537074.1:p.Gln3886=
XM_011538773.1:c.11655G=	XP_011537075.1:p.Gln3885=
XM_011538774.1:c.11646G=	XP_011537076.1:p.Gln3882=
XM_011538775.1:c.11667G=	XP_011537077.1:p.Gln3889=
XM_011538776.1:c.11574G=	XP_011537078.1:p.Gln3858=
XR_944740.1:n.13987G=
XM_005269162.4:c.11658G=	XP_005269219.1:p.Gln3886=
XM_006719614.4:c.11667G=	XP_006719677.1:p.Gln3889=
XM_006719616.3:c.11655G=	XP_006719679.1:p.Gln3885=
XM_011538770.2:c.11667G=	XP_011537072.1:p.Gln3889=
XM_011538771.2:c.11664G=	XP_011537073.1:p.Gln3888=
XM_011538772.2:c.11658G=	XP_011537074.1:p.Gln3886=
XM_011538773.2:c.11655G=	XP_011537075.1:p.Gln3885=
XM_011538774.2:c.11646G=	XP_011537076.1:p.Gln3882=
XM_011538776.2:c.11574G=	XP_011537078.1:p.Gln3858=
XR_001748874.1:n.12976G=
NM_003482.4:c.11658G= MANE Select	NP_003473.3:p.Gln3886=