Canonical Allele Identifier: CA6546287

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032856T>C , CM000674.2:g.49032856T>C	GRCh38
NC_000012.11:g.49426639T>C , CM000674.1:g.49426639T>C	GRCh37
NC_000012.10:g.47712906T>C	NCBI36
NG_027827.1:g.27469A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.11849A>G MANE Select	NP_003473.3:p.Gln3950Arg
ENST00000301067.12:c.11849A>G MANE Select	ENSP00000301067.7:p.Gln3950Arg
NM_003482.3:c.11849A>G	NP_003473.3:p.Gln3950Arg
ENST00000301067.11:c.11849A>G	ENSP00000301067.7:p.Gln3950Arg
ENST00000683543.2:c.11849A>G	ENSP00000506726.1:p.Gln3950Arg
ENST00000685166.1:c.11858A>G	ENSP00000509386.1:p.Gln3953Arg
ENST00000685554.1:c.1409A>G	ENSP00000508640.1:p.Gln470Arg
ENST00000687201.1:c.3428A>G	ENSP00000510037.1:p.Gln1143Arg
ENST00000692637.1:c.11846A>G	ENSP00000509666.1:p.Gln3949Arg
ENST00000692841.1:c.3328A>G	ENSP00000508711.1:n.3328A>G
XM_005269162.3:c.11849A>G	XP_005269219.1:p.Gln3950Arg
XM_005269162.4:c.11849A>G	XP_005269219.1:p.Gln3950Arg
XM_006719614.2:c.11858A>G	XP_006719677.1:p.Gln3953Arg
XM_006719614.4:c.11858A>G	XP_006719677.1:p.Gln3953Arg
XM_006719616.2:c.11846A>G	XP_006719679.1:p.Gln3949Arg
XM_006719616.3:c.11846A>G	XP_006719679.1:p.Gln3949Arg
XM_011538770.1:c.11858A>G	XP_011537072.1:p.Gln3953Arg
XM_011538770.2:c.11858A>G	XP_011537072.1:p.Gln3953Arg
XM_011538771.1:c.11855A>G	XP_011537073.1:p.Gln3952Arg
XM_011538771.2:c.11855A>G	XP_011537073.1:p.Gln3952Arg
XM_011538772.1:c.11849A>G	XP_011537074.1:p.Gln3950Arg
XM_011538772.2:c.11849A>G	XP_011537074.1:p.Gln3950Arg
XM_011538773.1:c.11846A>G	XP_011537075.1:p.Gln3949Arg
XM_011538773.2:c.11846A>G	XP_011537075.1:p.Gln3949Arg
XM_011538774.1:c.11837A>G	XP_011537076.1:p.Gln3946Arg
XM_011538774.2:c.11837A>G	XP_011537076.1:p.Gln3946Arg
XM_011538775.1:c.11858A>G	XP_011537077.1:p.Gln3953Arg
XM_011538776.1:c.11765A>G	XP_011537078.1:p.Gln3922Arg
XM_011538776.2:c.11765A>G	XP_011537078.1:p.Gln3922Arg
XR_001748874.1:n.13167A>G
XR_944740.1:n.14178A>G