Canonical Allele Identifier: CA4579681

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152177084A>G , CM000669.2:g.152177084A>G	GRCh38
NC_000007.13:g.151874169A>G , CM000669.1:g.151874169A>G	GRCh37
NC_000007.12:g.151505102A>G	NCBI36
NG_033948.1:g.263922T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.8369T>C MANE Select	NP_733751.2:p.Val2790Ala
ENST00000262189.11:c.8369T>C MANE Select	ENSP00000262189.6:p.Val2790Ala
NM_170606.2:c.8369T>C	NP_733751.2:p.Val2790Ala
ENST00000262189.10:c.8369T>C	ENSP00000262189.6:p.Val2790Ala
ENST00000355193.6:c.8369T>C	ENSP00000347325.3:p.Val2790Ala
ENST00000360104.7:c.885T>C
ENST00000360104.8:c.3991T>C
ENST00000473186.5:n.6080T>C
ENST00000558084.5:c.*5889T>C	ENSP00000453752.1:n.*5889T>C
ENST00000558665.2:c.1658T>C	ENSP00000454058.2:p.Val553Ala
ENST00000679393.1:n.1860T>C
ENST00000679560.1:c.3104T>C	ENSP00000505094.1:p.Val1035Ala
ENST00000679645.1:c.*4462T>C	ENSP00000505745.1:n.*4462T>C
ENST00000679882.1:c.8144T>C	ENSP00000506154.1:p.Val2715Ala
ENST00000680877.1:c.3104T>C	ENSP00000505724.1:p.Val1035Ala
ENST00000680969.1:c.5765T>C	ENSP00000505951.1:p.Val1922Ala
ENST00000681033.1:c.7067T>C	ENSP00000505058.1:p.Val2356Ala
ENST00000682176.1:c.5088T>C
ENST00000682283.1:c.8369T>C	ENSP00000507485.1:p.Val2790Ala
ENST00000683120.1:n.355T>C
ENST00000683159.1:c.3679T>C
ENST00000683200.1:c.5717T>C	ENSP00000508052.1:p.Val1906Ala
ENST00000683397.1:c.3104T>C	ENSP00000507053.1:p.Val1035Ala
ENST00000683625.1:c.3104T>C	ENSP00000507769.1:p.Val1035Ala
ENST00000683670.1:c.3104T>C	ENSP00000507634.1:p.Val1035Ala
ENST00000684261.1:c.3104T>C	ENSP00000508097.1:p.Val1035Ala
ENST00000684307.1:c.3104T>C	ENSP00000507202.1:p.Val1035Ala
ENST00000684398.1:c.3104T>C	ENSP00000507254.1:p.Val1035Ala
XM_005250025.3:c.8420T>C	XP_005250082.1:p.Val2807Ala
XM_005250025.4:c.8420T>C	XP_005250082.1:p.Val2807Ala
XM_005250026.2:c.8417T>C	XP_005250083.1:p.Val2806Ala
XM_005250026.3:c.8417T>C	XP_005250083.1:p.Val2806Ala
XM_005250027.3:c.8420T>C	XP_005250084.1:p.Val2807Ala
XM_005250027.4:c.8420T>C	XP_005250084.1:p.Val2807Ala
XM_005250028.3:c.8420T>C	XP_005250085.1:p.Val2807Ala
XM_005250028.4:c.8420T>C	XP_005250085.1:p.Val2807Ala
XM_005250031.3:c.8420T>C	XP_005250088.1:p.Val2807Ala
XM_005250031.4:c.8420T>C	XP_005250088.1:p.Val2807Ala
XM_006716077.2:c.8420T>C	XP_006716140.1:p.Val2807Ala
XM_006716077.3:c.8420T>C	XP_006716140.1:p.Val2807Ala
XM_006716078.2:c.8420T>C	XP_006716141.1:p.Val2807Ala
XM_006716078.3:c.8420T>C	XP_006716141.1:p.Val2807Ala
XM_006716079.2:c.8420T>C	XP_006716142.1:p.Val2807Ala
XM_006716079.3:c.8420T>C	XP_006716142.1:p.Val2807Ala
XM_011516450.1:c.8372T>C	XP_011514752.1:p.Val2791Ala
XM_011516450.2:c.8372T>C	XP_011514752.1:p.Val2791Ala
XM_011516451.1:c.8300T>C	XP_011514753.1:p.Val2767Ala
XM_011516451.2:c.8300T>C	XP_011514753.1:p.Val2767Ala
XM_011516452.1:c.8267T>C	XP_011514754.1:p.Val2756Ala
XM_011516452.2:c.8267T>C	XP_011514754.1:p.Val2756Ala
XM_011516453.1:c.8420T>C	XP_011514755.1:p.Val2807Ala
XM_011516453.2:c.8420T>C	XP_011514755.1:p.Val2807Ala
XM_011516454.1:c.7505T>C	XP_011514756.1:p.Val2502Ala
XM_011516454.2:c.7505T>C	XP_011514756.1:p.Val2502Ala
XM_011516455.1:c.5966T>C	XP_011514757.1:p.Val1989Ala
XM_011516456.1:c.8372T>C	XP_011514758.1:p.Val2791Ala
XM_011516456.2:c.8372T>C	XP_011514758.1:p.Val2791Ala
XM_017012480.1:c.8420T>C	XP_016867969.1:p.Val2807Ala
XM_017012481.1:c.8417T>C	XP_016867970.1:p.Val2806Ala
XM_017012482.1:c.8420T>C	XP_016867971.1:p.Val2807Ala
XM_017012483.1:c.8420T>C	XP_016867972.1:p.Val2807Ala
XM_017012484.1:c.8387T>C	XP_016867973.1:p.Val2796Ala
XM_017012485.1:c.8369T>C	XP_016867974.1:p.Val2790Ala
XM_017012486.1:c.8420T>C	XP_016867975.1:p.Val2807Ala
XM_017012487.1:c.8273T>C	XP_016867976.1:p.Val2758Ala
XM_017012488.1:c.8237T>C	XP_016867977.1:p.Val2746Ala
XM_017012489.1:c.5090T>C	XP_016867978.1:p.Val1697Ala
XM_017012490.2:c.4694T>C	XP_016867979.1:p.Val1565Ala
XM_024446852.1:c.8417T>C	XP_024302620.1:p.Val2806Ala
XM_024446853.1:c.8420T>C	XP_024302621.1:p.Val2807Ala
XR_428183.2:n.8628T>C
XR_428183.3:n.8652T>C