Canonical Allele Identifier: CA370075903
Community Standard Title: NM_170606.3(KMT2C):c.9235C>T (p.Arg3079Ter)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152176218G>A , CM000669.2:g.152176218G>A GRCh38
NC_000007.13:g.151873303G>A , CM000669.1:g.151873303G>A GRCh37
NC_000007.12:g.151504236G>A NCBI36
NG_033948.1:g.264788C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.9235C>T MANE Select NP_733751.2:p.Arg3079Ter
ENST00000262189.11:c.9235C>T MANE Select ENSP00000262189.6:p.Arg3079Ter
NM_170606.2:c.9235C>T NP_733751.2:p.Arg3079Ter
ENST00000262189.10:c.9235C>T ENSP00000262189.6:p.Arg3079Ter
ENST00000355193.6:c.9235C>T ENSP00000347325.3:p.Arg3079Ter
ENST00000360104.7:c.1751C>T
ENST00000360104.8:c.4857C>T
ENST00000473186.5:n.6946C>T
ENST00000558084.5:c.*6755C>T ENSP00000453752.1:n.*6755C>T
ENST00000558665.2:c.2524C>T ENSP00000454058.2:p.Arg842Ter
ENST00000679393.1:n.2726C>T
ENST00000679560.1:c.3970C>T ENSP00000505094.1:p.Arg1324Ter
ENST00000679882.1:c.9010C>T ENSP00000506154.1:p.Arg3004Ter
ENST00000680877.1:c.3970C>T ENSP00000505724.1:p.Arg1324Ter
ENST00000680969.1:c.6631C>T ENSP00000505951.1:p.Arg2211Ter
ENST00000681033.1:c.7933C>T ENSP00000505058.1:p.Arg2645Ter
ENST00000682176.1:c.5954C>T
ENST00000682283.1:c.9235C>T ENSP00000507485.1:p.Arg3079Ter
ENST00000683120.1:n.1221C>T
ENST00000683159.1:c.4545C>T
ENST00000683200.1:c.6583C>T ENSP00000508052.1:p.Arg2195Ter
ENST00000683397.1:c.3970C>T ENSP00000507053.1:p.Arg1324Ter
ENST00000683625.1:c.3970C>T ENSP00000507769.1:p.Arg1324Ter
ENST00000683670.1:c.3970C>T ENSP00000507634.1:p.Arg1324Ter
ENST00000684261.1:c.3970C>T ENSP00000508097.1:p.Arg1324Ter
ENST00000684307.1:c.3970C>T ENSP00000507202.1:p.Arg1324Ter
ENST00000684398.1:c.3970C>T ENSP00000507254.1:p.Arg1324Ter
XM_005250025.3:c.9286C>T XP_005250082.1:p.Arg3096Ter
XM_005250025.4:c.9286C>T XP_005250082.1:p.Arg3096Ter
XM_005250026.2:c.9283C>T XP_005250083.1:p.Arg3095Ter
XM_005250026.3:c.9283C>T XP_005250083.1:p.Arg3095Ter
XM_005250027.3:c.9286C>T XP_005250084.1:p.Arg3096Ter
XM_005250027.4:c.9286C>T XP_005250084.1:p.Arg3096Ter
XM_005250028.3:c.9286C>T XP_005250085.1:p.Arg3096Ter
XM_005250028.4:c.9286C>T XP_005250085.1:p.Arg3096Ter
XM_005250031.3:c.9286C>T XP_005250088.1:p.Arg3096Ter
XM_005250031.4:c.9286C>T XP_005250088.1:p.Arg3096Ter
XM_006716077.2:c.9286C>T XP_006716140.1:p.Arg3096Ter
XM_006716077.3:c.9286C>T XP_006716140.1:p.Arg3096Ter
XM_006716078.2:c.9286C>T XP_006716141.1:p.Arg3096Ter
XM_006716078.3:c.9286C>T XP_006716141.1:p.Arg3096Ter
XM_006716079.2:c.9286C>T XP_006716142.1:p.Arg3096Ter
XM_006716079.3:c.9286C>T XP_006716142.1:p.Arg3096Ter
XM_011516450.1:c.9238C>T XP_011514752.1:p.Arg3080Ter
XM_011516450.2:c.9238C>T XP_011514752.1:p.Arg3080Ter
XM_011516451.1:c.9166C>T XP_011514753.1:p.Arg3056Ter
XM_011516451.2:c.9166C>T XP_011514753.1:p.Arg3056Ter
XM_011516452.1:c.9133C>T XP_011514754.1:p.Arg3045Ter
XM_011516452.2:c.9133C>T XP_011514754.1:p.Arg3045Ter
XM_011516453.1:c.9286C>T XP_011514755.1:p.Arg3096Ter
XM_011516453.2:c.9286C>T XP_011514755.1:p.Arg3096Ter
XM_011516454.1:c.8371C>T XP_011514756.1:p.Arg2791Ter
XM_011516454.2:c.8371C>T XP_011514756.1:p.Arg2791Ter
XM_011516455.1:c.6832C>T XP_011514757.1:p.Arg2278Ter
XM_011516456.1:c.9238C>T XP_011514758.1:p.Arg3080Ter
XM_011516456.2:c.9238C>T XP_011514758.1:p.Arg3080Ter
XM_017012480.1:c.9286C>T XP_016867969.1:p.Arg3096Ter
XM_017012481.1:c.9283C>T XP_016867970.1:p.Arg3095Ter
XM_017012482.1:c.9286C>T XP_016867971.1:p.Arg3096Ter
XM_017012483.1:c.9286C>T XP_016867972.1:p.Arg3096Ter
XM_017012484.1:c.9253C>T XP_016867973.1:p.Arg3085Ter
XM_017012485.1:c.9235C>T XP_016867974.1:p.Arg3079Ter
XM_017012486.1:c.9286C>T XP_016867975.1:p.Arg3096Ter
XM_017012487.1:c.9139C>T XP_016867976.1:p.Arg3047Ter
XM_017012488.1:c.9103C>T XP_016867977.1:p.Arg3035Ter
XM_017012489.1:c.5956C>T XP_016867978.1:p.Arg1986Ter
XM_017012490.2:c.5560C>T XP_016867979.1:p.Arg1854Ter
XM_024446852.1:c.9283C>T XP_024302620.1:p.Arg3095Ter
XM_024446853.1:c.9286C>T XP_024302621.1:p.Arg3096Ter
XR_428183.2:n.9494C>T
XR_428183.3:n.9518C>T