Canonical Allele Identifier: CA6546692

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49037926C>T , CM000674.2:g.49037926C>T	GRCh38
NC_000012.11:g.49431709C>T , CM000674.1:g.49431709C>T	GRCh37
NC_000012.10:g.47717976C>T	NCBI36
NG_027827.1:g.22399G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.9430G>A MANE Select	NP_003473.3:p.Ala3144Thr
ENST00000301067.12:c.9430G>A MANE Select	ENSP00000301067.7:p.Ala3144Thr
NM_003482.3:c.9430G>A	NP_003473.3:p.Ala3144Thr
ENST00000301067.11:c.9430G>A	ENSP00000301067.7:p.Ala3144Thr
ENST00000683043.1:n.1129G>A
ENST00000683543.2:c.9430G>A	ENSP00000506726.1:p.Ala3144Thr
ENST00000685166.1:c.9439G>A	ENSP00000509386.1:p.Ala3147Thr
ENST00000687201.1:c.994G>A	ENSP00000510037.1:p.Ala332Thr
ENST00000689143.1:c.3033G>A	ENSP00000509839.1:n.3033G>A
ENST00000692637.1:c.9427G>A	ENSP00000509666.1:p.Ala3143Thr
ENST00000692841.1:c.994G>A	ENSP00000508711.1:p.Ala332Thr
XM_005269162.3:c.9430G>A	XP_005269219.1:p.Ala3144Thr
XM_005269162.4:c.9430G>A	XP_005269219.1:p.Ala3144Thr
XM_006719614.2:c.9439G>A	XP_006719677.1:p.Ala3147Thr
XM_006719614.4:c.9439G>A	XP_006719677.1:p.Ala3147Thr
XM_006719616.2:c.9427G>A	XP_006719679.1:p.Ala3143Thr
XM_006719616.3:c.9427G>A	XP_006719679.1:p.Ala3143Thr
XM_011538770.1:c.9439G>A	XP_011537072.1:p.Ala3147Thr
XM_011538770.2:c.9439G>A	XP_011537072.1:p.Ala3147Thr
XM_011538771.1:c.9436G>A	XP_011537073.1:p.Ala3146Thr
XM_011538771.2:c.9436G>A	XP_011537073.1:p.Ala3146Thr
XM_011538772.1:c.9430G>A	XP_011537074.1:p.Ala3144Thr
XM_011538772.2:c.9430G>A	XP_011537074.1:p.Ala3144Thr
XM_011538773.1:c.9427G>A	XP_011537075.1:p.Ala3143Thr
XM_011538773.2:c.9427G>A	XP_011537075.1:p.Ala3143Thr
XM_011538774.1:c.9418G>A	XP_011537076.1:p.Ala3140Thr
XM_011538774.2:c.9418G>A	XP_011537076.1:p.Ala3140Thr
XM_011538775.1:c.9439G>A	XP_011537077.1:p.Ala3147Thr
XM_011538776.1:c.9346G>A	XP_011537078.1:p.Ala3116Thr
XM_011538776.2:c.9346G>A	XP_011537078.1:p.Ala3116Thr
XR_001748874.1:n.10748G>A
XR_944740.1:n.11759G>A