Canonical Allele Identifier: CA370091857
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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