Canonical Allele Identifier: CA6545838

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49029405C>T , CM000674.2:g.49029405C>T	GRCh38
NC_000012.11:g.49423188C>T , CM000674.1:g.49423188C>T	GRCh37
NC_000012.10:g.47709455C>T	NCBI36
NG_027827.1:g.30920G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14071G>A MANE Select	NP_003473.3:p.Val4691Ile
ENST00000301067.12:c.14071G>A MANE Select	ENSP00000301067.7:p.Val4691Ile
NM_003482.3:c.14071G>A	NP_003473.3:p.Val4691Ile
ENST00000301067.11:c.14071G>A	ENSP00000301067.7:p.Val4691Ile
ENST00000683543.2:c.14071G>A	ENSP00000506726.1:p.Val4691Ile
ENST00000685166.1:c.14080G>A	ENSP00000509386.1:p.Val4694Ile
ENST00000685979.1:c.334G>A	ENSP00000508906.1:p.Val112Ile
ENST00000686564.1:c.331G>A	ENSP00000509290.1:p.Val111Ile
ENST00000687241.1:c.163G>A	ENSP00000509842.1:p.Val55Ile
ENST00000691986.1:c.370G>A	ENSP00000509196.1:p.Val124Ile
ENST00000692637.1:c.14068G>A	ENSP00000509666.1:p.Val4690Ile
XM_005269162.3:c.14071G>A	XP_005269219.1:p.Val4691Ile
XM_005269162.4:c.14071G>A	XP_005269219.1:p.Val4691Ile
XM_006719614.2:c.14080G>A	XP_006719677.1:p.Val4694Ile
XM_006719614.4:c.14080G>A	XP_006719677.1:p.Val4694Ile
XM_006719616.2:c.14068G>A	XP_006719679.1:p.Val4690Ile
XM_006719616.3:c.14068G>A	XP_006719679.1:p.Val4690Ile
XM_011538770.1:c.14080G>A	XP_011537072.1:p.Val4694Ile
XM_011538770.2:c.14080G>A	XP_011537072.1:p.Val4694Ile
XM_011538771.1:c.14077G>A	XP_011537073.1:p.Val4693Ile
XM_011538771.2:c.14077G>A	XP_011537073.1:p.Val4693Ile
XM_011538772.1:c.14071G>A	XP_011537074.1:p.Val4691Ile
XM_011538772.2:c.14071G>A	XP_011537074.1:p.Val4691Ile
XM_011538773.1:c.14068G>A	XP_011537075.1:p.Val4690Ile
XM_011538773.2:c.14068G>A	XP_011537075.1:p.Val4690Ile
XM_011538774.1:c.14059G>A	XP_011537076.1:p.Val4687Ile
XM_011538774.2:c.14059G>A	XP_011537076.1:p.Val4687Ile
XM_011538775.1:c.14014G>A	XP_011537077.1:p.Val4672Ile
XM_011538776.1:c.13987G>A	XP_011537078.1:p.Val4663Ile
XM_011538776.2:c.13987G>A	XP_011537078.1:p.Val4663Ile
XR_001748874.1:n.15389G>A
XR_944740.1:n.16400G>A