Canonical Allele Identifier: CA384688691
Community Standard Title: NM_003482.4(KMT2D):c.15311G>T (p.Cys5104Phe)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026655C>A , CM000674.2:g.49026655C>A GRCh38
NC_000012.11:g.49420438C>A , CM000674.1:g.49420438C>A GRCh37
NC_000012.10:g.47706705C>A NCBI36
NG_027827.1:g.33670G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15311G>T MANE Select NP_003473.3:p.Cys5104Phe
ENST00000301067.12:c.15311G>T MANE Select ENSP00000301067.7:p.Cys5104Phe
NM_003482.3:c.15311G>T NP_003473.3:p.Cys5104Phe
ENST00000301067.11:c.15311G>T ENSP00000301067.7:p.Cys5104Phe
ENST00000683543.2:c.15311G>T ENSP00000506726.1:p.Cys5104Phe
ENST00000685024.1:c.436G>T
ENST00000685166.1:c.15320G>T ENSP00000509386.1:p.Cys5107Phe
ENST00000688411.1:c.261+1148G>T ENSP00000510146.1:n.261+1148G>T
ENST00000691463.1:c.697G>T ENSP00000510624.1:n.697G>T
ENST00000692637.1:c.15308G>T ENSP00000509666.1:p.Cys5103Phe
XM_005269162.3:c.15311G>T XP_005269219.1:p.Cys5104Phe
XM_005269162.4:c.15311G>T XP_005269219.1:p.Cys5104Phe
XM_006719614.2:c.15320G>T XP_006719677.1:p.Cys5107Phe
XM_006719614.4:c.15320G>T XP_006719677.1:p.Cys5107Phe
XM_006719616.2:c.15308G>T XP_006719679.1:p.Cys5103Phe
XM_006719616.3:c.15308G>T XP_006719679.1:p.Cys5103Phe
XM_011538770.1:c.15320G>T XP_011537072.1:p.Cys5107Phe
XM_011538770.2:c.15320G>T XP_011537072.1:p.Cys5107Phe
XM_011538771.1:c.15317G>T XP_011537073.1:p.Cys5106Phe
XM_011538771.2:c.15317G>T XP_011537073.1:p.Cys5106Phe
XM_011538772.1:c.15311G>T XP_011537074.1:p.Cys5104Phe
XM_011538772.2:c.15311G>T XP_011537074.1:p.Cys5104Phe
XM_011538773.1:c.15308G>T XP_011537075.1:p.Cys5103Phe
XM_011538773.2:c.15308G>T XP_011537075.1:p.Cys5103Phe
XM_011538774.1:c.15299G>T XP_011537076.1:p.Cys5100Phe
XM_011538774.2:c.15299G>T XP_011537076.1:p.Cys5100Phe
XM_011538775.1:c.15254G>T XP_011537077.1:p.Cys5085Phe
XM_011538776.1:c.15227G>T XP_011537078.1:p.Cys5076Phe
XM_011538776.2:c.15227G>T XP_011537078.1:p.Cys5076Phe
XR_001748874.1:n.15961+1148G>T
XR_944740.1:n.16972+1148G>T