Canonical Allele Identifier: CA384703968
Community Standard Title: NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031198G>A , CM000674.2:g.49031198G>A GRCh38
NC_000012.11:g.49424981G>A , CM000674.1:g.49424981G>A GRCh37
NC_000012.10:g.47711248G>A NCBI36
NG_027827.1:g.29127C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13507C>T MANE Select NP_003473.3:p.Gln4503Ter
ENST00000301067.12:c.13507C>T MANE Select ENSP00000301067.7:p.Gln4503Ter
NM_003482.3:c.13507C>T NP_003473.3:p.Gln4503Ter
ENST00000301067.11:c.13507C>T ENSP00000301067.7:p.Gln4503Ter
ENST00000552391.1:n.207C>T
ENST00000552391.2:n.207C>T
ENST00000683543.2:c.13507C>T ENSP00000506726.1:p.Gln4503Ter
ENST00000685166.1:c.13516C>T ENSP00000509386.1:p.Gln4506Ter
ENST00000685554.1:c.1867C>T ENSP00000508640.1:p.Gln623Ter
ENST00000685982.1:c.115C>T ENSP00000508613.1:p.Gln39Ter
ENST00000691986.1:c.115C>T ENSP00000509196.1:p.Gln39Ter
ENST00000692637.1:c.13504C>T ENSP00000509666.1:p.Gln4502Ter
ENST00000692841.1:c.4986C>T ENSP00000508711.1:n.4986C>T
ENST00000692973.1:c.115C>T ENSP00000508893.1:p.Gln39Ter
XM_005269162.3:c.13507C>T XP_005269219.1:p.Gln4503Ter
XM_005269162.4:c.13507C>T XP_005269219.1:p.Gln4503Ter
XM_006719614.2:c.13516C>T XP_006719677.1:p.Gln4506Ter
XM_006719614.4:c.13516C>T XP_006719677.1:p.Gln4506Ter
XM_006719616.2:c.13504C>T XP_006719679.1:p.Gln4502Ter
XM_006719616.3:c.13504C>T XP_006719679.1:p.Gln4502Ter
XM_011538770.1:c.13516C>T XP_011537072.1:p.Gln4506Ter
XM_011538770.2:c.13516C>T XP_011537072.1:p.Gln4506Ter
XM_011538771.1:c.13513C>T XP_011537073.1:p.Gln4505Ter
XM_011538771.2:c.13513C>T XP_011537073.1:p.Gln4505Ter
XM_011538772.1:c.13507C>T XP_011537074.1:p.Gln4503Ter
XM_011538772.2:c.13507C>T XP_011537074.1:p.Gln4503Ter
XM_011538773.1:c.13504C>T XP_011537075.1:p.Gln4502Ter
XM_011538773.2:c.13504C>T XP_011537075.1:p.Gln4502Ter
XM_011538774.1:c.13495C>T XP_011537076.1:p.Gln4499Ter
XM_011538774.2:c.13495C>T XP_011537076.1:p.Gln4499Ter
XM_011538775.1:c.13516C>T XP_011537077.1:p.Gln4506Ter
XM_011538776.1:c.13423C>T XP_011537078.1:p.Gln4475Ter
XM_011538776.2:c.13423C>T XP_011537078.1:p.Gln4475Ter
XR_001748874.1:n.14825C>T
XR_944740.1:n.15836C>T