Canonical Allele Identifier: CA384697893

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49029226C>T , CM000674.2:g.49029226C>T	GRCh38
NC_000012.11:g.49423009C>T , CM000674.1:g.49423009C>T	GRCh37
NC_000012.10:g.47709276C>T	NCBI36
NG_027827.1:g.31099G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14086G>A MANE Select	NP_003473.3:p.Asp4696Asn
ENST00000301067.12:c.14086G>A MANE Select	ENSP00000301067.7:p.Asp4696Asn
NM_003482.3:c.14086G>A	NP_003473.3:p.Asp4696Asn
ENST00000301067.11:c.14086G>A	ENSP00000301067.7:p.Asp4696Asn
ENST00000683543.2:c.14086G>A	ENSP00000506726.1:p.Asp4696Asn
ENST00000685166.1:c.14095G>A	ENSP00000509386.1:p.Asp4699Asn
ENST00000685979.1:c.349G>A	ENSP00000508906.1:p.Asp117Asn
ENST00000686564.1:c.346G>A	ENSP00000509290.1:p.Asp116Asn
ENST00000687241.1:c.178G>A	ENSP00000509842.1:p.Asp60Asn
ENST00000691986.1:c.385G>A	ENSP00000509196.1:p.Asp129Asn
ENST00000692637.1:c.14083G>A	ENSP00000509666.1:p.Asp4695Asn
XM_005269162.3:c.14086G>A	XP_005269219.1:p.Asp4696Asn
XM_005269162.4:c.14086G>A	XP_005269219.1:p.Asp4696Asn
XM_006719614.2:c.14095G>A	XP_006719677.1:p.Asp4699Asn
XM_006719614.4:c.14095G>A	XP_006719677.1:p.Asp4699Asn
XM_006719616.2:c.14083G>A	XP_006719679.1:p.Asp4695Asn
XM_006719616.3:c.14083G>A	XP_006719679.1:p.Asp4695Asn
XM_011538770.1:c.14095G>A	XP_011537072.1:p.Asp4699Asn
XM_011538770.2:c.14095G>A	XP_011537072.1:p.Asp4699Asn
XM_011538771.1:c.14092G>A	XP_011537073.1:p.Asp4698Asn
XM_011538771.2:c.14092G>A	XP_011537073.1:p.Asp4698Asn
XM_011538772.1:c.14086G>A	XP_011537074.1:p.Asp4696Asn
XM_011538772.2:c.14086G>A	XP_011537074.1:p.Asp4696Asn
XM_011538773.1:c.14083G>A	XP_011537075.1:p.Asp4695Asn
XM_011538773.2:c.14083G>A	XP_011537075.1:p.Asp4695Asn
XM_011538774.1:c.14074G>A	XP_011537076.1:p.Asp4692Asn
XM_011538774.2:c.14074G>A	XP_011537076.1:p.Asp4692Asn
XM_011538775.1:c.14029G>A	XP_011537077.1:p.Asp4677Asn
XM_011538776.1:c.14002G>A	XP_011537078.1:p.Asp4668Asn
XM_011538776.2:c.14002G>A	XP_011537078.1:p.Asp4668Asn
XR_001748874.1:n.15404G>A
XR_944740.1:n.16415G>A