Canonical Allele Identifier: CA370091859

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845770A>T (hg19) ; chr7:g.152148685A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148685A>T , CM000669.2:g.152148685A>T	GRCh38
NC_000007.13:g.151845770A>T , CM000669.1:g.151845770A>T	GRCh37
NC_000007.12:g.151476703A>T	NCBI36
NG_033948.1:g.292321T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1430T>A
ENST00000682116.1:n.2374T>A
ENST00000682283.1:c.13413T>A	ENSP00000507485.1:p.Asp4471Glu
ENST00000682629.1:n.2542T>A
ENST00000683120.1:n.8434T>A
ENST00000683178.1:c.3815T>A
ENST00000683200.1:c.10752T>A	ENSP00000508052.1:p.Asp3584Glu
ENST00000683337.1:n.4872T>A
ENST00000683502.1:c.3887T>A
ENST00000683621.1:n.2008T>A
ENST00000683640.1:n.1958T>A
ENST00000684069.1:c.1659T>A	ENSP00000507650.1:p.Asp553Glu
ENST00000684261.1:c.8139T>A	ENSP00000508097.1:p.Asp2713Glu
ENST00000684649.1:c.3887T>A
ENST00000262189.11:c.13242T>A MANE Select	ENSP00000262189.6:p.Asp4414Glu
ENST00000360104.8:c.9029T>A
ENST00000418061.2:c.3884T>A
ENST00000424877.6:c.3818T>A
ENST00000679393.1:n.7953T>A
ENST00000679560.1:c.8142T>A	ENSP00000505094.1:p.Asp2714Glu
ENST00000679882.1:c.12807T>A	ENSP00000506154.1:p.Asp4269Glu
ENST00000680029.1:c.3819T>A
ENST00000680877.1:c.8142T>A	ENSP00000505724.1:p.Asp2714Glu
ENST00000681923.1:n.2257T>A
ENST00000262189.10:c.13242T>A	ENSP00000262189.6:p.Asp4414Glu
ENST00000355193.6:c.13242T>A	ENSP00000347325.3:p.Asp4414Glu
ENST00000360104.7:c.5923T>A
ENST00000424877.5:c.3093T>A	ENSP00000410411.1:p.Asp1031Glu
ENST00000473186.5:n.11124T>A
ENST00000558084.5:c.*10762T>A	ENSP00000453752.1:n.*10762T>A
NM_170606.2:c.13242T>A	NP_733751.2:p.Asp4414Glu
XM_005250025.3:c.13458T>A	XP_005250082.1:p.Asp4486Glu
XM_005250026.2:c.13455T>A	XP_005250083.1:p.Asp4485Glu
XM_005250027.3:c.13455T>A	XP_005250084.1:p.Asp4485Glu
XM_005250028.3:c.13458T>A	XP_005250085.1:p.Asp4486Glu
XM_005250031.3:c.13293T>A	XP_005250088.1:p.Asp4431Glu
XM_006716077.2:c.13455T>A	XP_006716140.1:p.Asp4485Glu
XM_006716078.2:c.13386T>A	XP_006716141.1:p.Asp4462Glu
XM_006716079.2:c.13290T>A	XP_006716142.1:p.Asp4430Glu
XM_011516450.1:c.13410T>A	XP_011514752.1:p.Asp4470Glu
XM_011516451.1:c.13338T>A	XP_011514753.1:p.Asp4446Glu
XM_011516452.1:c.13305T>A	XP_011514754.1:p.Asp4435Glu
XM_011516453.1:c.13221T>A	XP_011514755.1:p.Asp4407Glu
XM_011516454.1:c.12543T>A	XP_011514756.1:p.Asp4181Glu
XM_011516455.1:c.11004T>A	XP_011514757.1:p.Asp3668Glu
XM_011516456.1:c.13410T>A	XP_011514758.1:p.Asp4470Glu
XM_005250025.4:c.13458T>A	XP_005250082.1:p.Asp4486Glu
XM_005250026.3:c.13455T>A	XP_005250083.1:p.Asp4485Glu
XM_005250027.4:c.13455T>A	XP_005250084.1:p.Asp4485Glu
XM_005250028.4:c.13458T>A	XP_005250085.1:p.Asp4486Glu
XM_005250031.4:c.13293T>A	XP_005250088.1:p.Asp4431Glu
XM_006716077.3:c.13455T>A	XP_006716140.1:p.Asp4485Glu
XM_006716078.3:c.13386T>A	XP_006716141.1:p.Asp4462Glu
XM_006716079.3:c.13290T>A	XP_006716142.1:p.Asp4430Glu
XM_011516450.2:c.13410T>A	XP_011514752.1:p.Asp4470Glu
XM_011516451.2:c.13338T>A	XP_011514753.1:p.Asp4446Glu
XM_011516452.2:c.13305T>A	XP_011514754.1:p.Asp4435Glu
XM_011516453.2:c.13221T>A	XP_011514755.1:p.Asp4407Glu
XM_011516454.2:c.12543T>A	XP_011514756.1:p.Asp4181Glu
XM_011516456.2:c.13410T>A	XP_011514758.1:p.Asp4470Glu
XM_017012480.1:c.13458T>A	XP_016867969.1:p.Asp4486Glu
XM_017012481.1:c.13455T>A	XP_016867970.1:p.Asp4485Glu
XM_017012482.1:c.13455T>A	XP_016867971.1:p.Asp4485Glu
XM_017012483.1:c.13455T>A	XP_016867972.1:p.Asp4485Glu
XM_017012484.1:c.13425T>A	XP_016867973.1:p.Asp4475Glu
XM_017012485.1:c.13407T>A	XP_016867974.1:p.Asp4469Glu
XM_017012486.1:c.13383T>A	XP_016867975.1:p.Asp4461Glu
XM_017012487.1:c.13311T>A	XP_016867976.1:p.Asp4437Glu
XM_017012488.1:c.13275T>A	XP_016867977.1:p.Asp4425Glu
XM_017012489.1:c.10128T>A	XP_016867978.1:p.Asp3376Glu
XM_017012490.2:c.9732T>A	XP_016867979.1:p.Asp3244Glu
XM_024446852.1:c.13455T>A	XP_024302620.1:p.Asp4485Glu
XM_024446853.1:c.13383T>A	XP_024302621.1:p.Asp4461Glu
NM_170606.3:c.13242T>A MANE Select	NP_733751.2:p.Asp4414Glu