Canonical Allele Identifier: CA384696069

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49028874C>T , CM000674.2:g.49028874C>T	GRCh38
NC_000012.11:g.49422657C>T , CM000674.1:g.49422657C>T	GRCh37
NC_000012.10:g.47708924C>T	NCBI36
NG_027827.1:g.31451G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14336G>A MANE Select	NP_003473.3:p.Gly4779Glu
ENST00000301067.12:c.14336G>A MANE Select	ENSP00000301067.7:p.Gly4779Glu
NM_003482.3:c.14336G>A	NP_003473.3:p.Gly4779Glu
ENST00000301067.11:c.14336G>A	ENSP00000301067.7:p.Gly4779Glu
ENST00000683543.2:c.14336G>A	ENSP00000506726.1:p.Gly4779Glu
ENST00000685166.1:c.14345G>A	ENSP00000509386.1:p.Gly4782Glu
ENST00000687241.1:c.343+187G>A	ENSP00000509842.1:n.343+187G>A
ENST00000692637.1:c.14333G>A	ENSP00000509666.1:p.Gly4778Glu
XM_005269162.3:c.14336G>A	XP_005269219.1:p.Gly4779Glu
XM_005269162.4:c.14336G>A	XP_005269219.1:p.Gly4779Glu
XM_006719614.2:c.14345G>A	XP_006719677.1:p.Gly4782Glu
XM_006719614.4:c.14345G>A	XP_006719677.1:p.Gly4782Glu
XM_006719616.2:c.14333G>A	XP_006719679.1:p.Gly4778Glu
XM_006719616.3:c.14333G>A	XP_006719679.1:p.Gly4778Glu
XM_011538770.1:c.14345G>A	XP_011537072.1:p.Gly4782Glu
XM_011538770.2:c.14345G>A	XP_011537072.1:p.Gly4782Glu
XM_011538771.1:c.14342G>A	XP_011537073.1:p.Gly4781Glu
XM_011538771.2:c.14342G>A	XP_011537073.1:p.Gly4781Glu
XM_011538772.1:c.14336G>A	XP_011537074.1:p.Gly4779Glu
XM_011538772.2:c.14336G>A	XP_011537074.1:p.Gly4779Glu
XM_011538773.1:c.14333G>A	XP_011537075.1:p.Gly4778Glu
XM_011538773.2:c.14333G>A	XP_011537075.1:p.Gly4778Glu
XM_011538774.1:c.14324G>A	XP_011537076.1:p.Gly4775Glu
XM_011538774.2:c.14324G>A	XP_011537076.1:p.Gly4775Glu
XM_011538775.1:c.14279G>A	XP_011537077.1:p.Gly4760Glu
XM_011538776.1:c.14252G>A	XP_011537078.1:p.Gly4751Glu
XM_011538776.2:c.14252G>A	XP_011537078.1:p.Gly4751Glu
XR_001748874.1:n.15654G>A
XR_944740.1:n.16665G>A