Canonical Allele Identifier: CA384717237

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033106G>T , CM000674.2:g.49033106G>T	GRCh38
NC_000012.11:g.49426889G>T , CM000674.1:g.49426889G>T	GRCh37
NC_000012.10:g.47713156G>T	NCBI36
NG_027827.1:g.27219C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.11599C>A MANE Select	NP_003473.3:p.Gln3867Lys
ENST00000301067.12:c.11599C>A MANE Select	ENSP00000301067.7:p.Gln3867Lys
NM_003482.3:c.11599C>A	NP_003473.3:p.Gln3867Lys
ENST00000301067.11:c.11599C>A	ENSP00000301067.7:p.Gln3867Lys
ENST00000683543.2:c.11599C>A	ENSP00000506726.1:p.Gln3867Lys
ENST00000685166.1:c.11608C>A	ENSP00000509386.1:p.Gln3870Lys
ENST00000685554.1:c.1159C>A	ENSP00000508640.1:p.Gln387Lys
ENST00000687201.1:c.3178C>A	ENSP00000510037.1:p.Gln1060Lys
ENST00000692637.1:c.11596C>A	ENSP00000509666.1:p.Gln3866Lys
ENST00000692841.1:c.3078C>A	ENSP00000508711.1:n.3078C>A
XM_005269162.3:c.11599C>A	XP_005269219.1:p.Gln3867Lys
XM_005269162.4:c.11599C>A	XP_005269219.1:p.Gln3867Lys
XM_006719614.2:c.11608C>A	XP_006719677.1:p.Gln3870Lys
XM_006719614.4:c.11608C>A	XP_006719677.1:p.Gln3870Lys
XM_006719616.2:c.11596C>A	XP_006719679.1:p.Gln3866Lys
XM_006719616.3:c.11596C>A	XP_006719679.1:p.Gln3866Lys
XM_011538770.1:c.11608C>A	XP_011537072.1:p.Gln3870Lys
XM_011538770.2:c.11608C>A	XP_011537072.1:p.Gln3870Lys
XM_011538771.1:c.11605C>A	XP_011537073.1:p.Gln3869Lys
XM_011538771.2:c.11605C>A	XP_011537073.1:p.Gln3869Lys
XM_011538772.1:c.11599C>A	XP_011537074.1:p.Gln3867Lys
XM_011538772.2:c.11599C>A	XP_011537074.1:p.Gln3867Lys
XM_011538773.1:c.11596C>A	XP_011537075.1:p.Gln3866Lys
XM_011538773.2:c.11596C>A	XP_011537075.1:p.Gln3866Lys
XM_011538774.1:c.11587C>A	XP_011537076.1:p.Gln3863Lys
XM_011538774.2:c.11587C>A	XP_011537076.1:p.Gln3863Lys
XM_011538775.1:c.11608C>A	XP_011537077.1:p.Gln3870Lys
XM_011538776.1:c.11515C>A	XP_011537078.1:p.Gln3839Lys
XM_011538776.2:c.11515C>A	XP_011537078.1:p.Gln3839Lys
XR_001748874.1:n.12917C>A
XR_944740.1:n.13928C>A