Canonical Allele Identifier: CA384716552
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49033013G>T , CM000674.2:g.49033013G>T GRCh38
NC_000012.11:g.49426796G>T , CM000674.1:g.49426796G>T GRCh37
NC_000012.10:g.47713063G>T NCBI36
NG_027827.1:g.27312C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.11692C>A ENSP00000506726.1:p.Gln3898Lys
ENST00000685166.1:c.11701C>A ENSP00000509386.1:p.Gln3901Lys
ENST00000685554.1:c.1252C>A ENSP00000508640.1:p.Gln418Lys
ENST00000687201.1:c.3271C>A ENSP00000510037.1:p.Gln1091Lys
ENST00000692637.1:c.11689C>A ENSP00000509666.1:p.Gln3897Lys
ENST00000692841.1:c.3171C>A ENSP00000508711.1:n.3171C>A
ENST00000301067.12:c.11692C>A MANE Select ENSP00000301067.7:p.Gln3898Lys
ENST00000301067.11:c.11692C>A ENSP00000301067.7:p.Gln3898Lys
NM_003482.3:c.11692C>A NP_003473.3:p.Gln3898Lys
XM_005269162.3:c.11692C>A XP_005269219.1:p.Gln3898Lys
XM_006719614.2:c.11701C>A XP_006719677.1:p.Gln3901Lys
XM_006719616.2:c.11689C>A XP_006719679.1:p.Gln3897Lys
XM_011538770.1:c.11701C>A XP_011537072.1:p.Gln3901Lys
XM_011538771.1:c.11698C>A XP_011537073.1:p.Gln3900Lys
XM_011538772.1:c.11692C>A XP_011537074.1:p.Gln3898Lys
XM_011538773.1:c.11689C>A XP_011537075.1:p.Gln3897Lys
XM_011538774.1:c.11680C>A XP_011537076.1:p.Gln3894Lys
XM_011538775.1:c.11701C>A XP_011537077.1:p.Gln3901Lys
XM_011538776.1:c.11608C>A XP_011537078.1:p.Gln3870Lys
XR_944740.1:n.14021C>A
XM_005269162.4:c.11692C>A XP_005269219.1:p.Gln3898Lys
XM_006719614.4:c.11701C>A XP_006719677.1:p.Gln3901Lys
XM_006719616.3:c.11689C>A XP_006719679.1:p.Gln3897Lys
XM_011538770.2:c.11701C>A XP_011537072.1:p.Gln3901Lys
XM_011538771.2:c.11698C>A XP_011537073.1:p.Gln3900Lys
XM_011538772.2:c.11692C>A XP_011537074.1:p.Gln3898Lys
XM_011538773.2:c.11689C>A XP_011537075.1:p.Gln3897Lys
XM_011538774.2:c.11680C>A XP_011537076.1:p.Gln3894Lys
XM_011538776.2:c.11608C>A XP_011537078.1:p.Gln3870Lys
XR_001748874.1:n.13010C>A
NM_003482.4:c.11692C>A MANE Select NP_003473.3:p.Gln3898Lys