Canonical Allele Identifier: CA384703073
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs2120410759

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030902C>A , CM000674.2:g.49030902C>A GRCh38
NC_000012.11:g.49424685C>A , CM000674.1:g.49424685C>A GRCh37
NC_000012.10:g.47710952C>A NCBI36
NG_027827.1:g.29423G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000552391.2:n.362G>T
ENST00000683543.2:c.13662G>T ENSP00000506726.1:p.Gln4554His
ENST00000685166.1:c.13671G>T ENSP00000509386.1:p.Gln4557His
ENST00000685982.1:c.139-134G>T ENSP00000508613.1:n.139-134G>T
ENST00000691986.1:c.138+273G>T ENSP00000509196.1:n.138+273G>T
ENST00000692637.1:c.13659G>T ENSP00000509666.1:p.Gln4553His
ENST00000692973.1:c.263G>T ENSP00000508893.1:n.263G>T
ENST00000301067.12:c.13662G>T MANE Select ENSP00000301067.7:p.Gln4554His
ENST00000301067.11:c.13662G>T ENSP00000301067.7:p.Gln4554His
ENST00000552391.1:n.362G>T
NM_003482.3:c.13662G>T NP_003473.3:p.Gln4554His
XM_005269162.3:c.13662G>T XP_005269219.1:p.Gln4554His
XM_006719614.2:c.13671G>T XP_006719677.1:p.Gln4557His
XM_006719616.2:c.13659G>T XP_006719679.1:p.Gln4553His
XM_011538770.1:c.13671G>T XP_011537072.1:p.Gln4557His
XM_011538771.1:c.13668G>T XP_011537073.1:p.Gln4556His
XM_011538772.1:c.13662G>T XP_011537074.1:p.Gln4554His
XM_011538773.1:c.13659G>T XP_011537075.1:p.Gln4553His
XM_011538774.1:c.13650G>T XP_011537076.1:p.Gln4550His
XM_011538775.1:c.13671G>T XP_011537077.1:p.Gln4557His
XM_011538776.1:c.13578G>T XP_011537078.1:p.Gln4526His
XR_944740.1:n.15991G>T
XM_005269162.4:c.13662G>T XP_005269219.1:p.Gln4554His
XM_006719614.4:c.13671G>T XP_006719677.1:p.Gln4557His
XM_006719616.3:c.13659G>T XP_006719679.1:p.Gln4553His
XM_011538770.2:c.13671G>T XP_011537072.1:p.Gln4557His
XM_011538771.2:c.13668G>T XP_011537073.1:p.Gln4556His
XM_011538772.2:c.13662G>T XP_011537074.1:p.Gln4554His
XM_011538773.2:c.13659G>T XP_011537075.1:p.Gln4553His
XM_011538774.2:c.13650G>T XP_011537076.1:p.Gln4550His
XM_011538776.2:c.13578G>T XP_011537078.1:p.Gln4526His
XR_001748874.1:n.14980G>T
NM_003482.4:c.13662G>T MANE Select NP_003473.3:p.Gln4554His