Canonical Allele Identifier: CA384707619
Community Standard Title: NM_003482.4(KMT2D):c.13071G>T (p.Arg4357Ser)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031634C>A , CM000674.2:g.49031634C>A GRCh38
NC_000012.11:g.49425417C>A , CM000674.1:g.49425417C>A GRCh37
NC_000012.10:g.47711684C>A NCBI36
NG_027827.1:g.28691G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13071G>T MANE Select NP_003473.3:p.Arg4357Ser
ENST00000301067.12:c.13071G>T MANE Select ENSP00000301067.7:p.Arg4357Ser
NM_003482.3:c.13071G>T NP_003473.3:p.Arg4357Ser
ENST00000301067.11:c.13071G>T ENSP00000301067.7:p.Arg4357Ser
ENST00000683543.2:c.13071G>T ENSP00000506726.1:p.Arg4357Ser
ENST00000685166.1:c.13080G>T ENSP00000509386.1:p.Arg4360Ser
ENST00000685554.1:c.1753-322G>T ENSP00000508640.1:n.1753-322G>T
ENST00000692637.1:c.13068G>T ENSP00000509666.1:p.Arg4356Ser
ENST00000692841.1:c.4550G>T ENSP00000508711.1:n.4550G>T
XM_005269162.3:c.13071G>T XP_005269219.1:p.Arg4357Ser
XM_005269162.4:c.13071G>T XP_005269219.1:p.Arg4357Ser
XM_006719614.2:c.13080G>T XP_006719677.1:p.Arg4360Ser
XM_006719614.4:c.13080G>T XP_006719677.1:p.Arg4360Ser
XM_006719616.2:c.13068G>T XP_006719679.1:p.Arg4356Ser
XM_006719616.3:c.13068G>T XP_006719679.1:p.Arg4356Ser
XM_011538770.1:c.13080G>T XP_011537072.1:p.Arg4360Ser
XM_011538770.2:c.13080G>T XP_011537072.1:p.Arg4360Ser
XM_011538771.1:c.13077G>T XP_011537073.1:p.Arg4359Ser
XM_011538771.2:c.13077G>T XP_011537073.1:p.Arg4359Ser
XM_011538772.1:c.13071G>T XP_011537074.1:p.Arg4357Ser
XM_011538772.2:c.13071G>T XP_011537074.1:p.Arg4357Ser
XM_011538773.1:c.13068G>T XP_011537075.1:p.Arg4356Ser
XM_011538773.2:c.13068G>T XP_011537075.1:p.Arg4356Ser
XM_011538774.1:c.13059G>T XP_011537076.1:p.Arg4353Ser
XM_011538774.2:c.13059G>T XP_011537076.1:p.Arg4353Ser
XM_011538775.1:c.13080G>T XP_011537077.1:p.Arg4360Ser
XM_011538776.1:c.12987G>T XP_011537078.1:p.Arg4329Ser
XM_011538776.2:c.12987G>T XP_011537078.1:p.Arg4329Ser
XR_001748874.1:n.14389G>T
XR_944740.1:n.15400G>T