Canonical Allele Identifier: CA384690106
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 445885
dbSNP Id: rs1555185875

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026878G>A , CM000674.2:g.49026878G>A GRCh38
NC_000012.11:g.49420661G>A , CM000674.1:g.49420661G>A GRCh37
NC_000012.10:g.47706928G>A NCBI36
NG_027827.1:g.33447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.15088C>T ENSP00000506726.1:p.Arg5030Cys
ENST00000685024.1:c.213C>T
ENST00000685166.1:c.15097C>T ENSP00000509386.1:p.Arg5033Cys
ENST00000688411.1:c.261+925C>T ENSP00000510146.1:n.261+925C>T
ENST00000691463.1:c.474C>T ENSP00000510624.1:n.474C>T
ENST00000692637.1:c.15085C>T ENSP00000509666.1:p.Arg5029Cys
ENST00000301067.12:c.15088C>T MANE Select ENSP00000301067.7:p.Arg5030Cys
ENST00000301067.11:c.15088C>T ENSP00000301067.7:p.Arg5030Cys
NM_003482.3:c.15088C>T NP_003473.3:p.Arg5030Cys
XM_005269162.3:c.15088C>T XP_005269219.1:p.Arg5030Cys
XM_006719614.2:c.15097C>T XP_006719677.1:p.Arg5033Cys
XM_006719616.2:c.15085C>T XP_006719679.1:p.Arg5029Cys
XM_011538770.1:c.15097C>T XP_011537072.1:p.Arg5033Cys
XM_011538771.1:c.15094C>T XP_011537073.1:p.Arg5032Cys
XM_011538772.1:c.15088C>T XP_011537074.1:p.Arg5030Cys
XM_011538773.1:c.15085C>T XP_011537075.1:p.Arg5029Cys
XM_011538774.1:c.15076C>T XP_011537076.1:p.Arg5026Cys
XM_011538775.1:c.15031C>T XP_011537077.1:p.Arg5011Cys
XM_011538776.1:c.15004C>T XP_011537078.1:p.Arg5002Cys
XR_944740.1:n.16972+925C>T
XM_005269162.4:c.15088C>T XP_005269219.1:p.Arg5030Cys
XM_006719614.4:c.15097C>T XP_006719677.1:p.Arg5033Cys
XM_006719616.3:c.15085C>T XP_006719679.1:p.Arg5029Cys
XM_011538770.2:c.15097C>T XP_011537072.1:p.Arg5033Cys
XM_011538771.2:c.15094C>T XP_011537073.1:p.Arg5032Cys
XM_011538772.2:c.15088C>T XP_011537074.1:p.Arg5030Cys
XM_011538773.2:c.15085C>T XP_011537075.1:p.Arg5029Cys
XM_011538774.2:c.15076C>T XP_011537076.1:p.Arg5026Cys
XM_011538776.2:c.15004C>T XP_011537078.1:p.Arg5002Cys
XR_001748874.1:n.15961+925C>T
NM_003482.4:c.15088C>T MANE Select NP_003473.3:p.Arg5030Cys