Canonical Allele Identifier: CA6547028

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040166C>T , CM000674.2:g.49040166C>T	GRCh38
NC_000012.11:g.49433949C>T , CM000674.1:g.49433949C>T	GRCh37
NC_000012.10:g.47720216C>T	NCBI36
NG_027827.1:g.20159G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7604G>A MANE Select	NP_003473.3:p.Arg2535His
ENST00000301067.12:c.7604G>A MANE Select	ENSP00000301067.7:p.Arg2535His
NM_003482.3:c.7604G>A	NP_003473.3:p.Arg2535His
ENST00000301067.11:c.7604G>A	ENSP00000301067.7:p.Arg2535His
ENST00000683543.2:c.7604G>A	ENSP00000506726.1:p.Arg2535His
ENST00000685166.1:c.7613G>A	ENSP00000509386.1:p.Arg2538His
ENST00000689060.1:c.1623G>A
ENST00000689143.1:c.1277G>A	ENSP00000509839.1:p.Arg426His
ENST00000689944.1:c.1713G>A
ENST00000692637.1:c.7601G>A	ENSP00000509666.1:p.Arg2534His
XM_005269162.3:c.7604G>A	XP_005269219.1:p.Arg2535His
XM_005269162.4:c.7604G>A	XP_005269219.1:p.Arg2535His
XM_006719614.2:c.7613G>A	XP_006719677.1:p.Arg2538His
XM_006719614.4:c.7613G>A	XP_006719677.1:p.Arg2538His
XM_006719616.2:c.7601G>A	XP_006719679.1:p.Arg2534His
XM_006719616.3:c.7601G>A	XP_006719679.1:p.Arg2534His
XM_011538770.1:c.7613G>A	XP_011537072.1:p.Arg2538His
XM_011538770.2:c.7613G>A	XP_011537072.1:p.Arg2538His
XM_011538771.1:c.7610G>A	XP_011537073.1:p.Arg2537His
XM_011538771.2:c.7610G>A	XP_011537073.1:p.Arg2537His
XM_011538772.1:c.7604G>A	XP_011537074.1:p.Arg2535His
XM_011538772.2:c.7604G>A	XP_011537074.1:p.Arg2535His
XM_011538773.1:c.7601G>A	XP_011537075.1:p.Arg2534His
XM_011538773.2:c.7601G>A	XP_011537075.1:p.Arg2534His
XM_011538774.1:c.7592G>A	XP_011537076.1:p.Arg2531His
XM_011538774.2:c.7592G>A	XP_011537076.1:p.Arg2531His
XM_011538775.1:c.7613G>A	XP_011537077.1:p.Arg2538His
XM_011538776.1:c.7520G>A	XP_011537078.1:p.Arg2507His
XM_011538776.2:c.7520G>A	XP_011537078.1:p.Arg2507His
XR_001748874.1:n.8922G>A
XR_944740.1:n.9933G>A