Canonical Allele Identifier: CA1753025922

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183143T= , CM000669.2:g.152183143T=	GRCh38
NC_000007.13:g.151880228T= , CM000669.1:g.151880228T=	GRCh37
NC_000007.12:g.151511161T=	NCBI36
NG_033948.1:g.257863A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.1815A=
ENST00000682283.1:c.5096A=	ENSP00000507485.1:p.Asp1699=
ENST00000683159.1:c.576-549A=
ENST00000683200.1:c.2444A=	ENSP00000508052.1:p.Asp815=
ENST00000262189.11:c.5096A= MANE Select	ENSP00000262189.6:p.Asp1699=
ENST00000360104.8:c.718A=
ENST00000679645.1:c.*1189A=	ENSP00000505745.1:n.*1189A=
ENST00000679882.1:c.4871A=	ENSP00000506154.1:p.Asp1624=
ENST00000680969.1:c.2492A=	ENSP00000505951.1:p.Asp831=
ENST00000681033.1:c.3794A=	ENSP00000505058.1:p.Asp1265=
ENST00000681755.1:n.21A=
ENST00000262189.10:c.5096A=	ENSP00000262189.6:p.Asp1699=
ENST00000355193.6:c.5096A=	ENSP00000347325.3:p.Asp1699=
ENST00000473186.5:n.2807A=
ENST00000558084.5:c.*2616A=	ENSP00000453752.1:n.*2616A=
NM_170606.2:c.5096A=	NP_733751.2:p.Asp1699=
XM_005250025.3:c.5147A=	XP_005250082.1:p.Asp1716=
XM_005250026.2:c.5144A=	XP_005250083.1:p.Asp1715=
XM_005250027.3:c.5147A=	XP_005250084.1:p.Asp1716=
XM_005250028.3:c.5147A=	XP_005250085.1:p.Asp1716=
XM_005250031.3:c.5147A=	XP_005250088.1:p.Asp1716=
XM_006716077.2:c.5147A=	XP_006716140.1:p.Asp1716=
XM_006716078.2:c.5147A=	XP_006716141.1:p.Asp1716=
XM_006716079.2:c.5147A=	XP_006716142.1:p.Asp1716=
XM_011516450.1:c.5099A=	XP_011514752.1:p.Asp1700=
XM_011516451.1:c.5027A=	XP_011514753.1:p.Asp1676=
XM_011516452.1:c.4994A=	XP_011514754.1:p.Asp1665=
XM_011516453.1:c.5147A=	XP_011514755.1:p.Asp1716=
XM_011516454.1:c.4232A=	XP_011514756.1:p.Asp1411=
XM_011516455.1:c.2693A=	XP_011514757.1:p.Asp898=
XM_011516456.1:c.5099A=	XP_011514758.1:p.Asp1700=
XR_428183.2:n.5355A=
XM_005250025.4:c.5147A=	XP_005250082.1:p.Asp1716=
XM_005250026.3:c.5144A=	XP_005250083.1:p.Asp1715=
XM_005250027.4:c.5147A=	XP_005250084.1:p.Asp1716=
XM_005250028.4:c.5147A=	XP_005250085.1:p.Asp1716=
XM_005250031.4:c.5147A=	XP_005250088.1:p.Asp1716=
XM_006716077.3:c.5147A=	XP_006716140.1:p.Asp1716=
XM_006716078.3:c.5147A=	XP_006716141.1:p.Asp1716=
XM_006716079.3:c.5147A=	XP_006716142.1:p.Asp1716=
XM_011516450.2:c.5099A=	XP_011514752.1:p.Asp1700=
XM_011516451.2:c.5027A=	XP_011514753.1:p.Asp1676=
XM_011516452.2:c.4994A=	XP_011514754.1:p.Asp1665=
XM_011516453.2:c.5147A=	XP_011514755.1:p.Asp1716=
XM_011516454.2:c.4232A=	XP_011514756.1:p.Asp1411=
XM_011516456.2:c.5099A=	XP_011514758.1:p.Asp1700=
XM_017012480.1:c.5147A=	XP_016867969.1:p.Asp1716=
XM_017012481.1:c.5144A=	XP_016867970.1:p.Asp1715=
XM_017012482.1:c.5147A=	XP_016867971.1:p.Asp1716=
XM_017012483.1:c.5147A=	XP_016867972.1:p.Asp1716=
XM_017012484.1:c.5114A=	XP_016867973.1:p.Asp1705=
XM_017012485.1:c.5096A=	XP_016867974.1:p.Asp1699=
XM_017012486.1:c.5147A=	XP_016867975.1:p.Asp1716=
XM_017012487.1:c.5000A=	XP_016867976.1:p.Asp1667=
XM_017012488.1:c.5134-549A=	XP_016867977.1:n.5134-549A=
XM_017012489.1:c.1817A=	XP_016867978.1:p.Asp606=
XM_017012490.2:c.1421A=	XP_016867979.1:p.Asp474=
XM_024446852.1:c.5144A=	XP_024302620.1:p.Asp1715=
XM_024446853.1:c.5147A=	XP_024302621.1:p.Asp1716=
XR_428183.3:n.5379A=
NM_170606.3:c.5096A= MANE Select	NP_733751.2:p.Asp1699=