Canonical Allele Identifier: CA6545750

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49028129C>T , CM000674.2:g.49028129C>T	GRCh38
NC_000012.11:g.49421912C>T , CM000674.1:g.49421912C>T	GRCh37
NC_000012.10:g.47708179C>T	NCBI36
NG_027827.1:g.32196G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14395G>A MANE Select	NP_003473.3:p.Val4799Met
ENST00000301067.12:c.14395G>A MANE Select	ENSP00000301067.7:p.Val4799Met
NM_003482.3:c.14395G>A	NP_003473.3:p.Val4799Met
ENST00000301067.11:c.14395G>A	ENSP00000301067.7:p.Val4799Met
ENST00000683543.2:c.14395G>A	ENSP00000506726.1:p.Val4799Met
ENST00000685166.1:c.14404G>A	ENSP00000509386.1:p.Val4802Met
ENST00000687241.1:c.356G>A	ENSP00000509842.1:p.Arg119His
ENST00000688411.1:c.13G>A	ENSP00000510146.1:p.Val5Met
ENST00000691463.1:c.13G>A	ENSP00000510624.1:p.Val5Met
ENST00000692637.1:c.14392G>A	ENSP00000509666.1:p.Val4798Met
XM_005269162.3:c.14395G>A	XP_005269219.1:p.Val4799Met
XM_005269162.4:c.14395G>A	XP_005269219.1:p.Val4799Met
XM_006719614.2:c.14404G>A	XP_006719677.1:p.Val4802Met
XM_006719614.4:c.14404G>A	XP_006719677.1:p.Val4802Met
XM_006719616.2:c.14392G>A	XP_006719679.1:p.Val4798Met
XM_006719616.3:c.14392G>A	XP_006719679.1:p.Val4798Met
XM_011538770.1:c.14404G>A	XP_011537072.1:p.Val4802Met
XM_011538770.2:c.14404G>A	XP_011537072.1:p.Val4802Met
XM_011538771.1:c.14401G>A	XP_011537073.1:p.Val4801Met
XM_011538771.2:c.14401G>A	XP_011537073.1:p.Val4801Met
XM_011538772.1:c.14395G>A	XP_011537074.1:p.Val4799Met
XM_011538772.2:c.14395G>A	XP_011537074.1:p.Val4799Met
XM_011538773.1:c.14392G>A	XP_011537075.1:p.Val4798Met
XM_011538773.2:c.14392G>A	XP_011537075.1:p.Val4798Met
XM_011538774.1:c.14383G>A	XP_011537076.1:p.Val4795Met
XM_011538774.2:c.14383G>A	XP_011537076.1:p.Val4795Met
XM_011538775.1:c.14338G>A	XP_011537077.1:p.Val4780Met
XM_011538776.1:c.14311G>A	XP_011537078.1:p.Val4771Met
XM_011538776.2:c.14311G>A	XP_011537078.1:p.Val4771Met
XR_001748874.1:n.15713G>A
XR_944740.1:n.16724G>A