Canonical Allele Identifier: CA4579323

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152163307C>T , CM000669.2:g.152163307C>T	GRCh38
NC_000007.13:g.151860392C>T , CM000669.1:g.151860392C>T	GRCh37
NC_000007.12:g.151491325C>T	NCBI36
NG_033948.1:g.277699G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.10270G>A MANE Select	NP_733751.2:p.Ala3424Thr
ENST00000262189.11:c.10270G>A MANE Select	ENSP00000262189.6:p.Ala3424Thr
NM_170606.2:c.10270G>A	NP_733751.2:p.Ala3424Thr
ENST00000262189.10:c.10270G>A	ENSP00000262189.6:p.Ala3424Thr
ENST00000355193.6:c.10270G>A	ENSP00000347325.3:p.Ala3424Thr
ENST00000360104.7:c.2786G>A
ENST00000360104.8:c.5892G>A
ENST00000418061.2:c.753G>A
ENST00000424877.5:c.28G>A	ENSP00000410411.1:p.Ala10Thr
ENST00000424877.6:c.753G>A
ENST00000473186.5:n.7981G>A
ENST00000558084.5:c.*7790G>A	ENSP00000453752.1:n.*7790G>A
ENST00000679393.1:n.3761G>A
ENST00000679560.1:c.5005G>A	ENSP00000505094.1:p.Ala1669Thr
ENST00000679882.1:c.10045G>A	ENSP00000506154.1:p.Ala3349Thr
ENST00000680029.1:c.753G>A
ENST00000680877.1:c.5005G>A	ENSP00000505724.1:p.Ala1669Thr
ENST00000680969.1:c.7666G>A	ENSP00000505951.1:p.Ala2556Thr
ENST00000682283.1:c.10270G>A	ENSP00000507485.1:p.Ala3424Thr
ENST00000683120.1:n.2256G>A
ENST00000683178.1:c.753G>A
ENST00000683200.1:c.7618G>A	ENSP00000508052.1:p.Ala2540Thr
ENST00000683397.1:c.5028G>A	ENSP00000507053.1:n.5028G>A
ENST00000683502.1:c.753G>A
ENST00000683625.1:c.4613-130G>A	ENSP00000507769.1:n.4613-130G>A
ENST00000683670.1:c.5005G>A	ENSP00000507634.1:p.Ala1669Thr
ENST00000684261.1:c.5005G>A	ENSP00000508097.1:p.Ala1669Thr
ENST00000684307.1:c.4941G>A	ENSP00000507202.1:n.4941G>A
ENST00000684398.1:c.5005G>A	ENSP00000507254.1:p.Ala1669Thr
ENST00000684649.1:c.753G>A
XM_005250025.3:c.10321G>A	XP_005250082.1:p.Ala3441Thr
XM_005250025.4:c.10321G>A	XP_005250082.1:p.Ala3441Thr
XM_005250026.2:c.10318G>A	XP_005250083.1:p.Ala3440Thr
XM_005250026.3:c.10318G>A	XP_005250083.1:p.Ala3440Thr
XM_005250027.3:c.10321G>A	XP_005250084.1:p.Ala3441Thr
XM_005250027.4:c.10321G>A	XP_005250084.1:p.Ala3441Thr
XM_005250028.3:c.10321G>A	XP_005250085.1:p.Ala3441Thr
XM_005250028.4:c.10321G>A	XP_005250085.1:p.Ala3441Thr
XM_005250031.3:c.10321G>A	XP_005250088.1:p.Ala3441Thr
XM_005250031.4:c.10321G>A	XP_005250088.1:p.Ala3441Thr
XM_006716077.2:c.10321G>A	XP_006716140.1:p.Ala3441Thr
XM_006716077.3:c.10321G>A	XP_006716140.1:p.Ala3441Thr
XM_006716078.2:c.10321G>A	XP_006716141.1:p.Ala3441Thr
XM_006716078.3:c.10321G>A	XP_006716141.1:p.Ala3441Thr
XM_006716079.2:c.10321G>A	XP_006716142.1:p.Ala3441Thr
XM_006716079.3:c.10321G>A	XP_006716142.1:p.Ala3441Thr
XM_011516450.1:c.10273G>A	XP_011514752.1:p.Ala3425Thr
XM_011516450.2:c.10273G>A	XP_011514752.1:p.Ala3425Thr
XM_011516451.1:c.10201G>A	XP_011514753.1:p.Ala3401Thr
XM_011516451.2:c.10201G>A	XP_011514753.1:p.Ala3401Thr
XM_011516452.1:c.10168G>A	XP_011514754.1:p.Ala3390Thr
XM_011516452.2:c.10168G>A	XP_011514754.1:p.Ala3390Thr
XM_011516453.1:c.10321G>A	XP_011514755.1:p.Ala3441Thr
XM_011516453.2:c.10321G>A	XP_011514755.1:p.Ala3441Thr
XM_011516454.1:c.9406G>A	XP_011514756.1:p.Ala3136Thr
XM_011516454.2:c.9406G>A	XP_011514756.1:p.Ala3136Thr
XM_011516455.1:c.7867G>A	XP_011514757.1:p.Ala2623Thr
XM_011516456.1:c.10273G>A	XP_011514758.1:p.Ala3425Thr
XM_011516456.2:c.10273G>A	XP_011514758.1:p.Ala3425Thr
XM_017012480.1:c.10321G>A	XP_016867969.1:p.Ala3441Thr
XM_017012481.1:c.10318G>A	XP_016867970.1:p.Ala3440Thr
XM_017012482.1:c.10321G>A	XP_016867971.1:p.Ala3441Thr
XM_017012483.1:c.10321G>A	XP_016867972.1:p.Ala3441Thr
XM_017012484.1:c.10288G>A	XP_016867973.1:p.Ala3430Thr
XM_017012485.1:c.10270G>A	XP_016867974.1:p.Ala3424Thr
XM_017012486.1:c.10321G>A	XP_016867975.1:p.Ala3441Thr
XM_017012487.1:c.10174G>A	XP_016867976.1:p.Ala3392Thr
XM_017012488.1:c.10138G>A	XP_016867977.1:p.Ala3380Thr
XM_017012489.1:c.6991G>A	XP_016867978.1:p.Ala2331Thr
XM_017012490.2:c.6595G>A	XP_016867979.1:p.Ala2199Thr
XM_024446852.1:c.10318G>A	XP_024302620.1:p.Ala3440Thr
XM_024446853.1:c.10321G>A	XP_024302621.1:p.Ala3441Thr
XR_428183.2:n.10529G>A
XR_428183.3:n.10553G>A