Canonical Allele Identifier: CA4579608
Community Standard Title: NM_170606.3(KMT2C):c.8849A>G (p.His2950Arg)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152176604T>C , CM000669.2:g.152176604T>C GRCh38
NC_000007.13:g.151873689T>C , CM000669.1:g.151873689T>C GRCh37
NC_000007.12:g.151504622T>C NCBI36
NG_033948.1:g.264402A>G

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.8849A>G MANE Select NP_733751.2:p.His2950Arg
ENST00000262189.11:c.8849A>G MANE Select ENSP00000262189.6:p.His2950Arg
NM_170606.2:c.8849A>G NP_733751.2:p.His2950Arg
ENST00000262189.10:c.8849A>G ENSP00000262189.6:p.His2950Arg
ENST00000355193.6:c.8849A>G ENSP00000347325.3:p.His2950Arg
ENST00000360104.7:c.1365A>G
ENST00000360104.8:c.4471A>G
ENST00000473186.5:n.6560A>G
ENST00000558084.5:c.*6369A>G ENSP00000453752.1:n.*6369A>G
ENST00000558665.2:c.2138A>G ENSP00000454058.2:p.His713Arg
ENST00000679393.1:n.2340A>G
ENST00000679560.1:c.3584A>G ENSP00000505094.1:p.His1195Arg
ENST00000679882.1:c.8624A>G ENSP00000506154.1:p.His2875Arg
ENST00000680877.1:c.3584A>G ENSP00000505724.1:p.His1195Arg
ENST00000680969.1:c.6245A>G ENSP00000505951.1:p.His2082Arg
ENST00000681033.1:c.7547A>G ENSP00000505058.1:p.His2516Arg
ENST00000682176.1:c.5568A>G
ENST00000682283.1:c.8849A>G ENSP00000507485.1:p.His2950Arg
ENST00000683120.1:n.835A>G
ENST00000683159.1:c.4159A>G
ENST00000683200.1:c.6197A>G ENSP00000508052.1:p.His2066Arg
ENST00000683397.1:c.3584A>G ENSP00000507053.1:p.His1195Arg
ENST00000683625.1:c.3584A>G ENSP00000507769.1:p.His1195Arg
ENST00000683670.1:c.3584A>G ENSP00000507634.1:p.His1195Arg
ENST00000684261.1:c.3584A>G ENSP00000508097.1:p.His1195Arg
ENST00000684307.1:c.3584A>G ENSP00000507202.1:p.His1195Arg
ENST00000684398.1:c.3584A>G ENSP00000507254.1:p.His1195Arg
XM_005250025.3:c.8900A>G XP_005250082.1:p.His2967Arg
XM_005250025.4:c.8900A>G XP_005250082.1:p.His2967Arg
XM_005250026.2:c.8897A>G XP_005250083.1:p.His2966Arg
XM_005250026.3:c.8897A>G XP_005250083.1:p.His2966Arg
XM_005250027.3:c.8900A>G XP_005250084.1:p.His2967Arg
XM_005250027.4:c.8900A>G XP_005250084.1:p.His2967Arg
XM_005250028.3:c.8900A>G XP_005250085.1:p.His2967Arg
XM_005250028.4:c.8900A>G XP_005250085.1:p.His2967Arg
XM_005250031.3:c.8900A>G XP_005250088.1:p.His2967Arg
XM_005250031.4:c.8900A>G XP_005250088.1:p.His2967Arg
XM_006716077.2:c.8900A>G XP_006716140.1:p.His2967Arg
XM_006716077.3:c.8900A>G XP_006716140.1:p.His2967Arg
XM_006716078.2:c.8900A>G XP_006716141.1:p.His2967Arg
XM_006716078.3:c.8900A>G XP_006716141.1:p.His2967Arg
XM_006716079.2:c.8900A>G XP_006716142.1:p.His2967Arg
XM_006716079.3:c.8900A>G XP_006716142.1:p.His2967Arg
XM_011516450.1:c.8852A>G XP_011514752.1:p.His2951Arg
XM_011516450.2:c.8852A>G XP_011514752.1:p.His2951Arg
XM_011516451.1:c.8780A>G XP_011514753.1:p.His2927Arg
XM_011516451.2:c.8780A>G XP_011514753.1:p.His2927Arg
XM_011516452.1:c.8747A>G XP_011514754.1:p.His2916Arg
XM_011516452.2:c.8747A>G XP_011514754.1:p.His2916Arg
XM_011516453.1:c.8900A>G XP_011514755.1:p.His2967Arg
XM_011516453.2:c.8900A>G XP_011514755.1:p.His2967Arg
XM_011516454.1:c.7985A>G XP_011514756.1:p.His2662Arg
XM_011516454.2:c.7985A>G XP_011514756.1:p.His2662Arg
XM_011516455.1:c.6446A>G XP_011514757.1:p.His2149Arg
XM_011516456.1:c.8852A>G XP_011514758.1:p.His2951Arg
XM_011516456.2:c.8852A>G XP_011514758.1:p.His2951Arg
XM_017012480.1:c.8900A>G XP_016867969.1:p.His2967Arg
XM_017012481.1:c.8897A>G XP_016867970.1:p.His2966Arg
XM_017012482.1:c.8900A>G XP_016867971.1:p.His2967Arg
XM_017012483.1:c.8900A>G XP_016867972.1:p.His2967Arg
XM_017012484.1:c.8867A>G XP_016867973.1:p.His2956Arg
XM_017012485.1:c.8849A>G XP_016867974.1:p.His2950Arg
XM_017012486.1:c.8900A>G XP_016867975.1:p.His2967Arg
XM_017012487.1:c.8753A>G XP_016867976.1:p.His2918Arg
XM_017012488.1:c.8717A>G XP_016867977.1:p.His2906Arg
XM_017012489.1:c.5570A>G XP_016867978.1:p.His1857Arg
XM_017012490.2:c.5174A>G XP_016867979.1:p.His1725Arg
XM_024446852.1:c.8897A>G XP_024302620.1:p.His2966Arg
XM_024446853.1:c.8900A>G XP_024302621.1:p.His2967Arg
XR_428183.2:n.9108A>G
XR_428183.3:n.9132A>G