Canonical Allele Identifier: CA384704317
Community Standard Title: NM_003482.4(KMT2D):c.13441G>T (p.Glu4481Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031264C>A , CM000674.2:g.49031264C>A GRCh38
NC_000012.11:g.49425047C>A , CM000674.1:g.49425047C>A GRCh37
NC_000012.10:g.47711314C>A NCBI36
NG_027827.1:g.29061G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13441G>T MANE Select NP_003473.3:p.Glu4481Ter
ENST00000301067.12:c.13441G>T MANE Select ENSP00000301067.7:p.Glu4481Ter
NM_003482.3:c.13441G>T NP_003473.3:p.Glu4481Ter
ENST00000301067.11:c.13441G>T ENSP00000301067.7:p.Glu4481Ter
ENST00000552391.1:n.141G>T
ENST00000552391.2:n.141G>T
ENST00000683543.2:c.13441G>T ENSP00000506726.1:p.Glu4481Ter
ENST00000685166.1:c.13450G>T ENSP00000509386.1:p.Glu4484Ter
ENST00000685554.1:c.1801G>T ENSP00000508640.1:p.Glu601Ter
ENST00000685982.1:c.49G>T ENSP00000508613.1:p.Glu17Ter
ENST00000691986.1:c.49G>T ENSP00000509196.1:p.Glu17Ter
ENST00000692637.1:c.13438G>T ENSP00000509666.1:p.Glu4480Ter
ENST00000692841.1:c.4920G>T ENSP00000508711.1:n.4920G>T
ENST00000692973.1:c.49G>T ENSP00000508893.1:p.Glu17Ter
XM_005269162.3:c.13441G>T XP_005269219.1:p.Glu4481Ter
XM_005269162.4:c.13441G>T XP_005269219.1:p.Glu4481Ter
XM_006719614.2:c.13450G>T XP_006719677.1:p.Glu4484Ter
XM_006719614.4:c.13450G>T XP_006719677.1:p.Glu4484Ter
XM_006719616.2:c.13438G>T XP_006719679.1:p.Glu4480Ter
XM_006719616.3:c.13438G>T XP_006719679.1:p.Glu4480Ter
XM_011538770.1:c.13450G>T XP_011537072.1:p.Glu4484Ter
XM_011538770.2:c.13450G>T XP_011537072.1:p.Glu4484Ter
XM_011538771.1:c.13447G>T XP_011537073.1:p.Glu4483Ter
XM_011538771.2:c.13447G>T XP_011537073.1:p.Glu4483Ter
XM_011538772.1:c.13441G>T XP_011537074.1:p.Glu4481Ter
XM_011538772.2:c.13441G>T XP_011537074.1:p.Glu4481Ter
XM_011538773.1:c.13438G>T XP_011537075.1:p.Glu4480Ter
XM_011538773.2:c.13438G>T XP_011537075.1:p.Glu4480Ter
XM_011538774.1:c.13429G>T XP_011537076.1:p.Glu4477Ter
XM_011538774.2:c.13429G>T XP_011537076.1:p.Glu4477Ter
XM_011538775.1:c.13450G>T XP_011537077.1:p.Glu4484Ter
XM_011538776.1:c.13357G>T XP_011537078.1:p.Glu4453Ter
XM_011538776.2:c.13357G>T XP_011537078.1:p.Glu4453Ter
XR_001748874.1:n.14759G>T
XR_944740.1:n.15770G>T