Canonical Allele Identifier: CA384699422
Community Standard Title: NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49029417G>A , CM000674.2:g.49029417G>A GRCh38
NC_000012.11:g.49423200G>A , CM000674.1:g.49423200G>A GRCh37
NC_000012.10:g.47709467G>A NCBI36
NG_027827.1:g.30908C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14059C>T MANE Select NP_003473.3:p.Gln4687Ter
ENST00000301067.12:c.14059C>T MANE Select ENSP00000301067.7:p.Gln4687Ter
NM_003482.3:c.14059C>T NP_003473.3:p.Gln4687Ter
ENST00000301067.11:c.14059C>T ENSP00000301067.7:p.Gln4687Ter
ENST00000552391.2:n.920C>T
ENST00000683543.2:c.14059C>T ENSP00000506726.1:p.Gln4687Ter
ENST00000685166.1:c.14068C>T ENSP00000509386.1:p.Gln4690Ter
ENST00000685979.1:c.322C>T ENSP00000508906.1:p.Gln108Ter
ENST00000686564.1:c.319C>T ENSP00000509290.1:p.Gln107Ter
ENST00000687241.1:c.151C>T ENSP00000509842.1:p.Gln51Ter
ENST00000691986.1:c.358C>T ENSP00000509196.1:p.Gln120Ter
ENST00000692637.1:c.14056C>T ENSP00000509666.1:p.Gln4686Ter
XM_005269162.3:c.14059C>T XP_005269219.1:p.Gln4687Ter
XM_005269162.4:c.14059C>T XP_005269219.1:p.Gln4687Ter
XM_006719614.2:c.14068C>T XP_006719677.1:p.Gln4690Ter
XM_006719614.4:c.14068C>T XP_006719677.1:p.Gln4690Ter
XM_006719616.2:c.14056C>T XP_006719679.1:p.Gln4686Ter
XM_006719616.3:c.14056C>T XP_006719679.1:p.Gln4686Ter
XM_011538770.1:c.14068C>T XP_011537072.1:p.Gln4690Ter
XM_011538770.2:c.14068C>T XP_011537072.1:p.Gln4690Ter
XM_011538771.1:c.14065C>T XP_011537073.1:p.Gln4689Ter
XM_011538771.2:c.14065C>T XP_011537073.1:p.Gln4689Ter
XM_011538772.1:c.14059C>T XP_011537074.1:p.Gln4687Ter
XM_011538772.2:c.14059C>T XP_011537074.1:p.Gln4687Ter
XM_011538773.1:c.14056C>T XP_011537075.1:p.Gln4686Ter
XM_011538773.2:c.14056C>T XP_011537075.1:p.Gln4686Ter
XM_011538774.1:c.14047C>T XP_011537076.1:p.Gln4683Ter
XM_011538774.2:c.14047C>T XP_011537076.1:p.Gln4683Ter
XM_011538775.1:c.14002C>T XP_011537077.1:p.Gln4668Ter
XM_011538776.1:c.13975C>T XP_011537078.1:p.Gln4659Ter
XM_011538776.2:c.13975C>T XP_011537078.1:p.Gln4659Ter
XR_001748874.1:n.15377C>T
XR_944740.1:n.16388C>T