Canonical Allele Identifier: CA236634117
Community Standard Title: NM_003482.4(KMT2D):c.14684C>T (p.Thr4895Ile)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49027282G>A , CM000674.2:g.49027282G>A GRCh38
NC_000012.11:g.49421065G>A , CM000674.1:g.49421065G>A GRCh37
NC_000012.10:g.47707332G>A NCBI36
NG_027827.1:g.33043C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14684C>T MANE Select NP_003473.3:p.Thr4895Ile
ENST00000301067.12:c.14684C>T MANE Select ENSP00000301067.7:p.Thr4895Ile
NM_003482.3:c.14684C>T NP_003473.3:p.Thr4895Ile
ENST00000301067.11:c.14684C>T ENSP00000301067.7:p.Thr4895Ile
ENST00000683543.2:c.14684C>T ENSP00000506726.1:p.Thr4895Ile
ENST00000685166.1:c.14693C>T ENSP00000509386.1:p.Thr4898Ile
ENST00000686151.1:n.259C>T
ENST00000688411.1:c.261+521C>T ENSP00000510146.1:n.261+521C>T
ENST00000691463.1:c.262-192C>T ENSP00000510624.1:n.262-192C>T
ENST00000692637.1:c.14681C>T ENSP00000509666.1:p.Thr4894Ile
XM_005269162.3:c.14684C>T XP_005269219.1:p.Thr4895Ile
XM_005269162.4:c.14684C>T XP_005269219.1:p.Thr4895Ile
XM_006719614.2:c.14693C>T XP_006719677.1:p.Thr4898Ile
XM_006719614.4:c.14693C>T XP_006719677.1:p.Thr4898Ile
XM_006719616.2:c.14681C>T XP_006719679.1:p.Thr4894Ile
XM_006719616.3:c.14681C>T XP_006719679.1:p.Thr4894Ile
XM_011538770.1:c.14693C>T XP_011537072.1:p.Thr4898Ile
XM_011538770.2:c.14693C>T XP_011537072.1:p.Thr4898Ile
XM_011538771.1:c.14690C>T XP_011537073.1:p.Thr4897Ile
XM_011538771.2:c.14690C>T XP_011537073.1:p.Thr4897Ile
XM_011538772.1:c.14684C>T XP_011537074.1:p.Thr4895Ile
XM_011538772.2:c.14684C>T XP_011537074.1:p.Thr4895Ile
XM_011538773.1:c.14681C>T XP_011537075.1:p.Thr4894Ile
XM_011538773.2:c.14681C>T XP_011537075.1:p.Thr4894Ile
XM_011538774.1:c.14672C>T XP_011537076.1:p.Thr4891Ile
XM_011538774.2:c.14672C>T XP_011537076.1:p.Thr4891Ile
XM_011538775.1:c.14627C>T XP_011537077.1:p.Thr4876Ile
XM_011538776.1:c.14600C>T XP_011537078.1:p.Thr4867Ile
XM_011538776.2:c.14600C>T XP_011537078.1:p.Thr4867Ile
XR_001748874.1:n.15961+521C>T
XR_944740.1:n.16972+521C>T