Canonical Allele Identifier: CA169231585

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152163370G>A , CM000669.2:g.152163370G>A	GRCh38
NC_000007.13:g.151860455G>A , CM000669.1:g.151860455G>A	GRCh37
NC_000007.12:g.151491388G>A	NCBI36
NG_033948.1:g.277636C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.10207C>T MANE Select	NP_733751.2:p.Arg3403Cys
ENST00000262189.11:c.10207C>T MANE Select	ENSP00000262189.6:p.Arg3403Cys
NM_170606.2:c.10207C>T	NP_733751.2:p.Arg3403Cys
ENST00000262189.10:c.10207C>T	ENSP00000262189.6:p.Arg3403Cys
ENST00000355193.6:c.10207C>T	ENSP00000347325.3:p.Arg3403Cys
ENST00000360104.7:c.2723C>T
ENST00000360104.8:c.5829C>T
ENST00000418061.2:c.690C>T
ENST00000424877.6:c.690C>T
ENST00000473186.5:n.7918C>T
ENST00000558084.5:c.*7727C>T	ENSP00000453752.1:n.*7727C>T
ENST00000679393.1:n.3698C>T
ENST00000679560.1:c.4942C>T	ENSP00000505094.1:p.Arg1648Cys
ENST00000679882.1:c.9982C>T	ENSP00000506154.1:p.Arg3328Cys
ENST00000680029.1:c.690C>T
ENST00000680877.1:c.4942C>T	ENSP00000505724.1:p.Arg1648Cys
ENST00000680969.1:c.7603C>T	ENSP00000505951.1:p.Arg2535Cys
ENST00000682283.1:c.10207C>T	ENSP00000507485.1:p.Arg3403Cys
ENST00000683120.1:n.2193C>T
ENST00000683178.1:c.690C>T
ENST00000683200.1:c.7555C>T	ENSP00000508052.1:p.Arg2519Cys
ENST00000683397.1:c.4965C>T	ENSP00000507053.1:n.4965C>T
ENST00000683502.1:c.690C>T
ENST00000683625.1:c.4613-193C>T	ENSP00000507769.1:n.4613-193C>T
ENST00000683670.1:c.4942C>T	ENSP00000507634.1:p.Arg1648Cys
ENST00000684261.1:c.4942C>T	ENSP00000508097.1:p.Arg1648Cys
ENST00000684307.1:c.4878C>T	ENSP00000507202.1:n.4878C>T
ENST00000684398.1:c.4942C>T	ENSP00000507254.1:p.Arg1648Cys
ENST00000684649.1:c.690C>T
XM_005250025.3:c.10258C>T	XP_005250082.1:p.Arg3420Cys
XM_005250025.4:c.10258C>T	XP_005250082.1:p.Arg3420Cys
XM_005250026.2:c.10255C>T	XP_005250083.1:p.Arg3419Cys
XM_005250026.3:c.10255C>T	XP_005250083.1:p.Arg3419Cys
XM_005250027.3:c.10258C>T	XP_005250084.1:p.Arg3420Cys
XM_005250027.4:c.10258C>T	XP_005250084.1:p.Arg3420Cys
XM_005250028.3:c.10258C>T	XP_005250085.1:p.Arg3420Cys
XM_005250028.4:c.10258C>T	XP_005250085.1:p.Arg3420Cys
XM_005250031.3:c.10258C>T	XP_005250088.1:p.Arg3420Cys
XM_005250031.4:c.10258C>T	XP_005250088.1:p.Arg3420Cys
XM_006716077.2:c.10258C>T	XP_006716140.1:p.Arg3420Cys
XM_006716077.3:c.10258C>T	XP_006716140.1:p.Arg3420Cys
XM_006716078.2:c.10258C>T	XP_006716141.1:p.Arg3420Cys
XM_006716078.3:c.10258C>T	XP_006716141.1:p.Arg3420Cys
XM_006716079.2:c.10258C>T	XP_006716142.1:p.Arg3420Cys
XM_006716079.3:c.10258C>T	XP_006716142.1:p.Arg3420Cys
XM_011516450.1:c.10210C>T	XP_011514752.1:p.Arg3404Cys
XM_011516450.2:c.10210C>T	XP_011514752.1:p.Arg3404Cys
XM_011516451.1:c.10138C>T	XP_011514753.1:p.Arg3380Cys
XM_011516451.2:c.10138C>T	XP_011514753.1:p.Arg3380Cys
XM_011516452.1:c.10105C>T	XP_011514754.1:p.Arg3369Cys
XM_011516452.2:c.10105C>T	XP_011514754.1:p.Arg3369Cys
XM_011516453.1:c.10258C>T	XP_011514755.1:p.Arg3420Cys
XM_011516453.2:c.10258C>T	XP_011514755.1:p.Arg3420Cys
XM_011516454.1:c.9343C>T	XP_011514756.1:p.Arg3115Cys
XM_011516454.2:c.9343C>T	XP_011514756.1:p.Arg3115Cys
XM_011516455.1:c.7804C>T	XP_011514757.1:p.Arg2602Cys
XM_011516456.1:c.10210C>T	XP_011514758.1:p.Arg3404Cys
XM_011516456.2:c.10210C>T	XP_011514758.1:p.Arg3404Cys
XM_017012480.1:c.10258C>T	XP_016867969.1:p.Arg3420Cys
XM_017012481.1:c.10255C>T	XP_016867970.1:p.Arg3419Cys
XM_017012482.1:c.10258C>T	XP_016867971.1:p.Arg3420Cys
XM_017012483.1:c.10258C>T	XP_016867972.1:p.Arg3420Cys
XM_017012484.1:c.10225C>T	XP_016867973.1:p.Arg3409Cys
XM_017012485.1:c.10207C>T	XP_016867974.1:p.Arg3403Cys
XM_017012486.1:c.10258C>T	XP_016867975.1:p.Arg3420Cys
XM_017012487.1:c.10111C>T	XP_016867976.1:p.Arg3371Cys
XM_017012488.1:c.10075C>T	XP_016867977.1:p.Arg3359Cys
XM_017012489.1:c.6928C>T	XP_016867978.1:p.Arg2310Cys
XM_017012490.2:c.6532C>T	XP_016867979.1:p.Arg2178Cys
XM_024446852.1:c.10255C>T	XP_024302620.1:p.Arg3419Cys
XM_024446853.1:c.10258C>T	XP_024302621.1:p.Arg3420Cys
XR_428183.2:n.10466C>T
XR_428183.3:n.10490C>T