Canonical Allele Identifier: CA6545858
Community Standard Title: NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030328G>A , CM000674.2:g.49030328G>A GRCh38
NC_000012.11:g.49424111G>A , CM000674.1:g.49424111G>A GRCh37
NC_000012.10:g.47710378G>A NCBI36
NG_027827.1:g.29997C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13951C>T MANE Select NP_003473.3:p.His4651Tyr
ENST00000301067.12:c.13951C>T MANE Select ENSP00000301067.7:p.His4651Tyr
NM_003482.3:c.13951C>T NP_003473.3:p.His4651Tyr
ENST00000301067.11:c.13951C>T ENSP00000301067.7:p.His4651Tyr
ENST00000552391.1:n.812C>T
ENST00000552391.2:n.812C>T
ENST00000683543.2:c.13951C>T ENSP00000506726.1:p.His4651Tyr
ENST00000685166.1:c.13960C>T ENSP00000509386.1:p.His4654Tyr
ENST00000685979.1:c.214C>T ENSP00000508906.1:p.His72Tyr
ENST00000686564.1:c.211C>T ENSP00000509290.1:p.His71Tyr
ENST00000687241.1:c.43C>T ENSP00000509842.1:p.His15Tyr
ENST00000691986.1:c.250C>T ENSP00000509196.1:p.His84Tyr
ENST00000692637.1:c.13948C>T ENSP00000509666.1:p.His4650Tyr
XM_005269162.3:c.13951C>T XP_005269219.1:p.His4651Tyr
XM_005269162.4:c.13951C>T XP_005269219.1:p.His4651Tyr
XM_006719614.2:c.13960C>T XP_006719677.1:p.His4654Tyr
XM_006719614.4:c.13960C>T XP_006719677.1:p.His4654Tyr
XM_006719616.2:c.13948C>T XP_006719679.1:p.His4650Tyr
XM_006719616.3:c.13948C>T XP_006719679.1:p.His4650Tyr
XM_011538770.1:c.13960C>T XP_011537072.1:p.His4654Tyr
XM_011538770.2:c.13960C>T XP_011537072.1:p.His4654Tyr
XM_011538771.1:c.13957C>T XP_011537073.1:p.His4653Tyr
XM_011538771.2:c.13957C>T XP_011537073.1:p.His4653Tyr
XM_011538772.1:c.13951C>T XP_011537074.1:p.His4651Tyr
XM_011538772.2:c.13951C>T XP_011537074.1:p.His4651Tyr
XM_011538773.1:c.13948C>T XP_011537075.1:p.His4650Tyr
XM_011538773.2:c.13948C>T XP_011537075.1:p.His4650Tyr
XM_011538774.1:c.13939C>T XP_011537076.1:p.His4647Tyr
XM_011538774.2:c.13939C>T XP_011537076.1:p.His4647Tyr
XM_011538775.1:c.13894C>T XP_011537077.1:p.His4632Tyr
XM_011538776.1:c.13867C>T XP_011537078.1:p.His4623Tyr
XM_011538776.2:c.13867C>T XP_011537078.1:p.His4623Tyr
XR_001748874.1:n.15269C>T
XR_944740.1:n.16280C>T