Canonical Allele Identifier: CA254198
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 7537
ClinVar RCV Id: RCV000007973
dbSNP Id: rs267607240

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030985T>A , CM000674.2:g.49030985T>A GRCh38
NC_000012.11:g.49424768T>A , CM000674.1:g.49424768T>A GRCh37
NC_000012.10:g.47711035T>A NCBI36
NG_027827.1:g.29340A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000552391.2:n.279A>T
ENST00000683543.2:c.13579A>T ENSP00000506726.1:p.Lys4527Ter
ENST00000685166.1:c.13588A>T ENSP00000509386.1:p.Lys4530Ter
ENST00000685982.1:c.138+190A>T ENSP00000508613.1:n.138+190A>T
ENST00000691986.1:c.138+190A>T ENSP00000509196.1:n.138+190A>T
ENST00000692637.1:c.13576A>T ENSP00000509666.1:p.Lys4526Ter
ENST00000692973.1:c.180A>T ENSP00000508893.1:n.180A>T
ENST00000301067.12:c.13579A>T MANE Select ENSP00000301067.7:p.Lys4527Ter
ENST00000301067.11:c.13579A>T ENSP00000301067.7:p.Lys4527Ter
ENST00000552391.1:n.279A>T
NM_003482.3:c.13579A>T NP_003473.3:p.Lys4527Ter
XM_005269162.3:c.13579A>T XP_005269219.1:p.Lys4527Ter
XM_006719614.2:c.13588A>T XP_006719677.1:p.Lys4530Ter
XM_006719616.2:c.13576A>T XP_006719679.1:p.Lys4526Ter
XM_011538770.1:c.13588A>T XP_011537072.1:p.Lys4530Ter
XM_011538771.1:c.13585A>T XP_011537073.1:p.Lys4529Ter
XM_011538772.1:c.13579A>T XP_011537074.1:p.Lys4527Ter
XM_011538773.1:c.13576A>T XP_011537075.1:p.Lys4526Ter
XM_011538774.1:c.13567A>T XP_011537076.1:p.Lys4523Ter
XM_011538775.1:c.13588A>T XP_011537077.1:p.Lys4530Ter
XM_011538776.1:c.13495A>T XP_011537078.1:p.Lys4499Ter
XR_944740.1:n.15908A>T
XM_005269162.4:c.13579A>T XP_005269219.1:p.Lys4527Ter
XM_006719614.4:c.13588A>T XP_006719677.1:p.Lys4530Ter
XM_006719616.3:c.13576A>T XP_006719679.1:p.Lys4526Ter
XM_011538770.2:c.13588A>T XP_011537072.1:p.Lys4530Ter
XM_011538771.2:c.13585A>T XP_011537073.1:p.Lys4529Ter
XM_011538772.2:c.13579A>T XP_011537074.1:p.Lys4527Ter
XM_011538773.2:c.13576A>T XP_011537075.1:p.Lys4526Ter
XM_011538774.2:c.13567A>T XP_011537076.1:p.Lys4523Ter
XM_011538776.2:c.13495A>T XP_011537078.1:p.Lys4499Ter
XR_001748874.1:n.14897A>T
NM_003482.4:c.13579A>T MANE Select NP_003473.3:p.Lys4527Ter