Canonical Allele Identifier: CA384717291
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49033111T>A , CM000674.2:g.49033111T>A GRCh38
NC_000012.11:g.49426894T>A , CM000674.1:g.49426894T>A GRCh37
NC_000012.10:g.47713161T>A NCBI36
NG_027827.1:g.27214A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.11594A>T ENSP00000506726.1:p.Gln3865Leu
ENST00000685166.1:c.11603A>T ENSP00000509386.1:p.Gln3868Leu
ENST00000685554.1:c.1154A>T ENSP00000508640.1:p.Gln385Leu
ENST00000687201.1:c.3173A>T ENSP00000510037.1:p.Gln1058Leu
ENST00000692637.1:c.11591A>T ENSP00000509666.1:p.Gln3864Leu
ENST00000692841.1:c.3073A>T ENSP00000508711.1:n.3073A>T
ENST00000301067.12:c.11594A>T MANE Select ENSP00000301067.7:p.Gln3865Leu
ENST00000301067.11:c.11594A>T ENSP00000301067.7:p.Gln3865Leu
NM_003482.3:c.11594A>T NP_003473.3:p.Gln3865Leu
XM_005269162.3:c.11594A>T XP_005269219.1:p.Gln3865Leu
XM_006719614.2:c.11603A>T XP_006719677.1:p.Gln3868Leu
XM_006719616.2:c.11591A>T XP_006719679.1:p.Gln3864Leu
XM_011538770.1:c.11603A>T XP_011537072.1:p.Gln3868Leu
XM_011538771.1:c.11600A>T XP_011537073.1:p.Gln3867Leu
XM_011538772.1:c.11594A>T XP_011537074.1:p.Gln3865Leu
XM_011538773.1:c.11591A>T XP_011537075.1:p.Gln3864Leu
XM_011538774.1:c.11582A>T XP_011537076.1:p.Gln3861Leu
XM_011538775.1:c.11603A>T XP_011537077.1:p.Gln3868Leu
XM_011538776.1:c.11510A>T XP_011537078.1:p.Gln3837Leu
XR_944740.1:n.13923A>T
XM_005269162.4:c.11594A>T XP_005269219.1:p.Gln3865Leu
XM_006719614.4:c.11603A>T XP_006719677.1:p.Gln3868Leu
XM_006719616.3:c.11591A>T XP_006719679.1:p.Gln3864Leu
XM_011538770.2:c.11603A>T XP_011537072.1:p.Gln3868Leu
XM_011538771.2:c.11600A>T XP_011537073.1:p.Gln3867Leu
XM_011538772.2:c.11594A>T XP_011537074.1:p.Gln3865Leu
XM_011538773.2:c.11591A>T XP_011537075.1:p.Gln3864Leu
XM_011538774.2:c.11582A>T XP_011537076.1:p.Gln3861Leu
XM_011538776.2:c.11510A>T XP_011537078.1:p.Gln3837Leu
XR_001748874.1:n.12912A>T
NM_003482.4:c.11594A>T MANE Select NP_003473.3:p.Gln3865Leu