Canonical Allele Identifier: CA6545857
Community Standard Title: NM_003482.4(KMT2D):c.13964C>T (p.Ala4655Val)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030315G>A , CM000674.2:g.49030315G>A GRCh38
NC_000012.11:g.49424098G>A , CM000674.1:g.49424098G>A GRCh37
NC_000012.10:g.47710365G>A NCBI36
NG_027827.1:g.30010C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13964C>T MANE Select NP_003473.3:p.Ala4655Val
ENST00000301067.12:c.13964C>T MANE Select ENSP00000301067.7:p.Ala4655Val
NM_003482.3:c.13964C>T NP_003473.3:p.Ala4655Val
ENST00000301067.11:c.13964C>T ENSP00000301067.7:p.Ala4655Val
ENST00000552391.1:n.825C>T
ENST00000552391.2:n.825C>T
ENST00000683543.2:c.13964C>T ENSP00000506726.1:p.Ala4655Val
ENST00000685166.1:c.13973C>T ENSP00000509386.1:p.Ala4658Val
ENST00000685979.1:c.227C>T ENSP00000508906.1:p.Ala76Val
ENST00000686564.1:c.224C>T ENSP00000509290.1:p.Ala75Val
ENST00000687241.1:c.56C>T ENSP00000509842.1:p.Ala19Val
ENST00000691986.1:c.263C>T ENSP00000509196.1:p.Ala88Val
ENST00000692637.1:c.13961C>T ENSP00000509666.1:p.Ala4654Val
XM_005269162.3:c.13964C>T XP_005269219.1:p.Ala4655Val
XM_005269162.4:c.13964C>T XP_005269219.1:p.Ala4655Val
XM_006719614.2:c.13973C>T XP_006719677.1:p.Ala4658Val
XM_006719614.4:c.13973C>T XP_006719677.1:p.Ala4658Val
XM_006719616.2:c.13961C>T XP_006719679.1:p.Ala4654Val
XM_006719616.3:c.13961C>T XP_006719679.1:p.Ala4654Val
XM_011538770.1:c.13973C>T XP_011537072.1:p.Ala4658Val
XM_011538770.2:c.13973C>T XP_011537072.1:p.Ala4658Val
XM_011538771.1:c.13970C>T XP_011537073.1:p.Ala4657Val
XM_011538771.2:c.13970C>T XP_011537073.1:p.Ala4657Val
XM_011538772.1:c.13964C>T XP_011537074.1:p.Ala4655Val
XM_011538772.2:c.13964C>T XP_011537074.1:p.Ala4655Val
XM_011538773.1:c.13961C>T XP_011537075.1:p.Ala4654Val
XM_011538773.2:c.13961C>T XP_011537075.1:p.Ala4654Val
XM_011538774.1:c.13952C>T XP_011537076.1:p.Ala4651Val
XM_011538774.2:c.13952C>T XP_011537076.1:p.Ala4651Val
XM_011538775.1:c.13907C>T XP_011537077.1:p.Ala4636Val
XM_011538776.1:c.13880C>T XP_011537078.1:p.Ala4627Val
XM_011538776.2:c.13880C>T XP_011537078.1:p.Ala4627Val
XR_001748874.1:n.15282C>T
XR_944740.1:n.16293C>T