Canonical Allele Identifier: CA6546313

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033249C>T , CM000674.2:g.49033249C>T	GRCh38
NC_000012.11:g.49427032C>T , CM000674.1:g.49427032C>T	GRCh37
NC_000012.10:g.47713299C>T	NCBI36
NG_027827.1:g.27076G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.11456G>A MANE Select	NP_003473.3:p.Gly3819Asp
ENST00000301067.12:c.11456G>A MANE Select	ENSP00000301067.7:p.Gly3819Asp
NM_003482.3:c.11456G>A	NP_003473.3:p.Gly3819Asp
ENST00000301067.11:c.11456G>A	ENSP00000301067.7:p.Gly3819Asp
ENST00000683543.2:c.11456G>A	ENSP00000506726.1:p.Gly3819Asp
ENST00000685166.1:c.11465G>A	ENSP00000509386.1:p.Gly3822Asp
ENST00000685554.1:c.1016G>A	ENSP00000508640.1:p.Gly339Asp
ENST00000687201.1:c.3035G>A	ENSP00000510037.1:p.Gly1012Asp
ENST00000692637.1:c.11453G>A	ENSP00000509666.1:p.Gly3818Asp
ENST00000692841.1:c.2935G>A	ENSP00000508711.1:n.2935G>A
XM_005269162.3:c.11456G>A	XP_005269219.1:p.Gly3819Asp
XM_005269162.4:c.11456G>A	XP_005269219.1:p.Gly3819Asp
XM_006719614.2:c.11465G>A	XP_006719677.1:p.Gly3822Asp
XM_006719614.4:c.11465G>A	XP_006719677.1:p.Gly3822Asp
XM_006719616.2:c.11453G>A	XP_006719679.1:p.Gly3818Asp
XM_006719616.3:c.11453G>A	XP_006719679.1:p.Gly3818Asp
XM_011538770.1:c.11465G>A	XP_011537072.1:p.Gly3822Asp
XM_011538770.2:c.11465G>A	XP_011537072.1:p.Gly3822Asp
XM_011538771.1:c.11462G>A	XP_011537073.1:p.Gly3821Asp
XM_011538771.2:c.11462G>A	XP_011537073.1:p.Gly3821Asp
XM_011538772.1:c.11456G>A	XP_011537074.1:p.Gly3819Asp
XM_011538772.2:c.11456G>A	XP_011537074.1:p.Gly3819Asp
XM_011538773.1:c.11453G>A	XP_011537075.1:p.Gly3818Asp
XM_011538773.2:c.11453G>A	XP_011537075.1:p.Gly3818Asp
XM_011538774.1:c.11444G>A	XP_011537076.1:p.Gly3815Asp
XM_011538774.2:c.11444G>A	XP_011537076.1:p.Gly3815Asp
XM_011538775.1:c.11465G>A	XP_011537077.1:p.Gly3822Asp
XM_011538776.1:c.11372G>A	XP_011537078.1:p.Gly3791Asp
XM_011538776.2:c.11372G>A	XP_011537078.1:p.Gly3791Asp
XR_001748874.1:n.12774G>A
XR_944740.1:n.13785G>A