Canonical Allele Identifier: CA384697218

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49029123C>T , CM000674.2:g.49029123C>T	GRCh38
NC_000012.11:g.49422906C>T , CM000674.1:g.49422906C>T	GRCh37
NC_000012.10:g.47709173C>T	NCBI36
NG_027827.1:g.31202G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14189G>A MANE Select	NP_003473.3:p.Trp4730Ter
ENST00000301067.12:c.14189G>A MANE Select	ENSP00000301067.7:p.Trp4730Ter
NM_003482.3:c.14189G>A	NP_003473.3:p.Trp4730Ter
ENST00000301067.11:c.14189G>A	ENSP00000301067.7:p.Trp4730Ter
ENST00000683543.2:c.14189G>A	ENSP00000506726.1:p.Trp4730Ter
ENST00000685166.1:c.14198G>A	ENSP00000509386.1:p.Trp4733Ter
ENST00000685979.1:c.452G>A	ENSP00000508906.1:p.Trp151Ter
ENST00000686564.1:c.449G>A	ENSP00000509290.1:p.Trp150Ter
ENST00000687241.1:c.281G>A	ENSP00000509842.1:p.Trp94Ter
ENST00000691986.1:c.488G>A	ENSP00000509196.1:p.Trp163Ter
ENST00000692637.1:c.14186G>A	ENSP00000509666.1:p.Trp4729Ter
XM_005269162.3:c.14189G>A	XP_005269219.1:p.Trp4730Ter
XM_005269162.4:c.14189G>A	XP_005269219.1:p.Trp4730Ter
XM_006719614.2:c.14198G>A	XP_006719677.1:p.Trp4733Ter
XM_006719614.4:c.14198G>A	XP_006719677.1:p.Trp4733Ter
XM_006719616.2:c.14186G>A	XP_006719679.1:p.Trp4729Ter
XM_006719616.3:c.14186G>A	XP_006719679.1:p.Trp4729Ter
XM_011538770.1:c.14198G>A	XP_011537072.1:p.Trp4733Ter
XM_011538770.2:c.14198G>A	XP_011537072.1:p.Trp4733Ter
XM_011538771.1:c.14195G>A	XP_011537073.1:p.Trp4732Ter
XM_011538771.2:c.14195G>A	XP_011537073.1:p.Trp4732Ter
XM_011538772.1:c.14189G>A	XP_011537074.1:p.Trp4730Ter
XM_011538772.2:c.14189G>A	XP_011537074.1:p.Trp4730Ter
XM_011538773.1:c.14186G>A	XP_011537075.1:p.Trp4729Ter
XM_011538773.2:c.14186G>A	XP_011537075.1:p.Trp4729Ter
XM_011538774.1:c.14177G>A	XP_011537076.1:p.Trp4726Ter
XM_011538774.2:c.14177G>A	XP_011537076.1:p.Trp4726Ter
XM_011538775.1:c.14132G>A	XP_011537077.1:p.Trp4711Ter
XM_011538776.1:c.14105G>A	XP_011537078.1:p.Trp4702Ter
XM_011538776.2:c.14105G>A	XP_011537078.1:p.Trp4702Ter
XR_001748874.1:n.15507G>A
XR_944740.1:n.16518G>A