Canonical Allele Identifier: CA6545861
Community Standard Title: NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030355C>T , CM000674.2:g.49030355C>T GRCh38
NC_000012.11:g.49424138C>T , CM000674.1:g.49424138C>T GRCh37
NC_000012.10:g.47710405C>T NCBI36
NG_027827.1:g.29970G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13924G>A MANE Select NP_003473.3:p.Val4642Ile
ENST00000301067.12:c.13924G>A MANE Select ENSP00000301067.7:p.Val4642Ile
NM_003482.3:c.13924G>A NP_003473.3:p.Val4642Ile
ENST00000301067.11:c.13924G>A ENSP00000301067.7:p.Val4642Ile
ENST00000552391.1:n.785G>A
ENST00000552391.2:n.785G>A
ENST00000683543.2:c.13924G>A ENSP00000506726.1:p.Val4642Ile
ENST00000685166.1:c.13933G>A ENSP00000509386.1:p.Val4645Ile
ENST00000685979.1:c.187G>A ENSP00000508906.1:p.Val63Ile
ENST00000686564.1:c.184G>A ENSP00000509290.1:p.Val62Ile
ENST00000687241.1:c.16G>A ENSP00000509842.1:p.Val6Ile
ENST00000691986.1:c.223G>A ENSP00000509196.1:p.Val75Ile
ENST00000692637.1:c.13921G>A ENSP00000509666.1:p.Val4641Ile
XM_005269162.3:c.13924G>A XP_005269219.1:p.Val4642Ile
XM_005269162.4:c.13924G>A XP_005269219.1:p.Val4642Ile
XM_006719614.2:c.13933G>A XP_006719677.1:p.Val4645Ile
XM_006719614.4:c.13933G>A XP_006719677.1:p.Val4645Ile
XM_006719616.2:c.13921G>A XP_006719679.1:p.Val4641Ile
XM_006719616.3:c.13921G>A XP_006719679.1:p.Val4641Ile
XM_011538770.1:c.13933G>A XP_011537072.1:p.Val4645Ile
XM_011538770.2:c.13933G>A XP_011537072.1:p.Val4645Ile
XM_011538771.1:c.13930G>A XP_011537073.1:p.Val4644Ile
XM_011538771.2:c.13930G>A XP_011537073.1:p.Val4644Ile
XM_011538772.1:c.13924G>A XP_011537074.1:p.Val4642Ile
XM_011538772.2:c.13924G>A XP_011537074.1:p.Val4642Ile
XM_011538773.1:c.13921G>A XP_011537075.1:p.Val4641Ile
XM_011538773.2:c.13921G>A XP_011537075.1:p.Val4641Ile
XM_011538774.1:c.13912G>A XP_011537076.1:p.Val4638Ile
XM_011538774.2:c.13912G>A XP_011537076.1:p.Val4638Ile
XM_011538775.1:c.13867G>A XP_011537077.1:p.Val4623Ile
XM_011538776.1:c.13840G>A XP_011537078.1:p.Val4614Ile
XM_011538776.2:c.13840G>A XP_011537078.1:p.Val4614Ile
XR_001748874.1:n.15242G>A
XR_944740.1:n.16253G>A