Canonical Allele Identifier: CA236644434
Community Standard Title: NM_003482.4(KMT2D):c.9566G>T (p.Gly3189Val)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49037790C>A , CM000674.2:g.49037790C>A GRCh38
NC_000012.11:g.49431573C>A , CM000674.1:g.49431573C>A GRCh37
NC_000012.10:g.47717840C>A NCBI36
NG_027827.1:g.22535G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.9566G>T MANE Select NP_003473.3:p.Gly3189Val
ENST00000301067.12:c.9566G>T MANE Select ENSP00000301067.7:p.Gly3189Val
NM_003482.3:c.9566G>T NP_003473.3:p.Gly3189Val
ENST00000301067.11:c.9566G>T ENSP00000301067.7:p.Gly3189Val
ENST00000683043.1:n.1265G>T
ENST00000683543.2:c.9566G>T ENSP00000506726.1:p.Gly3189Val
ENST00000685166.1:c.9575G>T ENSP00000509386.1:p.Gly3192Val
ENST00000687201.1:c.1130G>T ENSP00000510037.1:p.Gly377Val
ENST00000689143.1:c.3169G>T ENSP00000509839.1:n.3169G>T
ENST00000692637.1:c.9563G>T ENSP00000509666.1:p.Gly3188Val
ENST00000692841.1:c.1130G>T ENSP00000508711.1:p.Gly377Val
XM_005269162.3:c.9566G>T XP_005269219.1:p.Gly3189Val
XM_005269162.4:c.9566G>T XP_005269219.1:p.Gly3189Val
XM_006719614.2:c.9575G>T XP_006719677.1:p.Gly3192Val
XM_006719614.4:c.9575G>T XP_006719677.1:p.Gly3192Val
XM_006719616.2:c.9563G>T XP_006719679.1:p.Gly3188Val
XM_006719616.3:c.9563G>T XP_006719679.1:p.Gly3188Val
XM_011538770.1:c.9575G>T XP_011537072.1:p.Gly3192Val
XM_011538770.2:c.9575G>T XP_011537072.1:p.Gly3192Val
XM_011538771.1:c.9572G>T XP_011537073.1:p.Gly3191Val
XM_011538771.2:c.9572G>T XP_011537073.1:p.Gly3191Val
XM_011538772.1:c.9566G>T XP_011537074.1:p.Gly3189Val
XM_011538772.2:c.9566G>T XP_011537074.1:p.Gly3189Val
XM_011538773.1:c.9563G>T XP_011537075.1:p.Gly3188Val
XM_011538773.2:c.9563G>T XP_011537075.1:p.Gly3188Val
XM_011538774.1:c.9554G>T XP_011537076.1:p.Gly3185Val
XM_011538774.2:c.9554G>T XP_011537076.1:p.Gly3185Val
XM_011538775.1:c.9575G>T XP_011537077.1:p.Gly3192Val
XM_011538776.1:c.9482G>T XP_011537078.1:p.Gly3161Val
XM_011538776.2:c.9482G>T XP_011537078.1:p.Gly3161Val
XR_001748874.1:n.10884G>T
XR_944740.1:n.11895G>T