Canonical Allele Identifier: CA370093199
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148831T>G , CM000669.2:g.152148831T>G GRCh38
NC_000007.13:g.151845916T>G , CM000669.1:g.151845916T>G GRCh37
NC_000007.12:g.151476849T>G NCBI36
NG_033948.1:g.292175A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1284A>C
ENST00000682116.1:n.2228A>C
ENST00000682283.1:c.13267A>C ENSP00000507485.1:p.Ile4423Leu
ENST00000682629.1:n.2396A>C
ENST00000683120.1:n.8288A>C
ENST00000683178.1:c.3669A>C
ENST00000683200.1:c.10606A>C ENSP00000508052.1:p.Ile3536Leu
ENST00000683337.1:n.4726A>C
ENST00000683502.1:c.3741A>C
ENST00000683621.1:n.1862A>C
ENST00000683640.1:n.1812A>C
ENST00000684069.1:c.1513A>C ENSP00000507650.1:p.Ile505Leu
ENST00000684261.1:c.7993A>C ENSP00000508097.1:p.Ile2665Leu
ENST00000684649.1:c.3741A>C
ENST00000262189.11:c.13096A>C MANE Select ENSP00000262189.6:p.Ile4366Leu
ENST00000360104.8:c.8883A>C
ENST00000418061.2:c.3738A>C
ENST00000424877.6:c.3672A>C
ENST00000679393.1:n.7807A>C
ENST00000679560.1:c.7996A>C ENSP00000505094.1:p.Ile2666Leu
ENST00000679882.1:c.12661A>C ENSP00000506154.1:p.Ile4221Leu
ENST00000680029.1:c.3673A>C
ENST00000680877.1:c.7996A>C ENSP00000505724.1:p.Ile2666Leu
ENST00000681923.1:n.2111A>C
ENST00000262189.10:c.13096A>C ENSP00000262189.6:p.Ile4366Leu
ENST00000355193.6:c.13096A>C ENSP00000347325.3:p.Ile4366Leu
ENST00000360104.7:c.5777A>C
ENST00000424877.5:c.2947A>C ENSP00000410411.1:p.Ile983Leu
ENST00000473186.5:n.10978A>C
ENST00000558084.5:c.*10616A>C ENSP00000453752.1:n.*10616A>C
NM_170606.2:c.13096A>C NP_733751.2:p.Ile4366Leu
XM_005250025.3:c.13312A>C XP_005250082.1:p.Ile4438Leu
XM_005250026.2:c.13309A>C XP_005250083.1:p.Ile4437Leu
XM_005250027.3:c.13309A>C XP_005250084.1:p.Ile4437Leu
XM_005250028.3:c.13312A>C XP_005250085.1:p.Ile4438Leu
XM_005250031.3:c.13147A>C XP_005250088.1:p.Ile4383Leu
XM_006716077.2:c.13309A>C XP_006716140.1:p.Ile4437Leu
XM_006716078.2:c.13240A>C XP_006716141.1:p.Ile4414Leu
XM_006716079.2:c.13144A>C XP_006716142.1:p.Ile4382Leu
XM_011516450.1:c.13264A>C XP_011514752.1:p.Ile4422Leu
XM_011516451.1:c.13192A>C XP_011514753.1:p.Ile4398Leu
XM_011516452.1:c.13159A>C XP_011514754.1:p.Ile4387Leu
XM_011516453.1:c.13075A>C XP_011514755.1:p.Ile4359Leu
XM_011516454.1:c.12397A>C XP_011514756.1:p.Ile4133Leu
XM_011516455.1:c.10858A>C XP_011514757.1:p.Ile3620Leu
XM_011516456.1:c.13264A>C XP_011514758.1:p.Ile4422Leu
XM_005250025.4:c.13312A>C XP_005250082.1:p.Ile4438Leu
XM_005250026.3:c.13309A>C XP_005250083.1:p.Ile4437Leu
XM_005250027.4:c.13309A>C XP_005250084.1:p.Ile4437Leu
XM_005250028.4:c.13312A>C XP_005250085.1:p.Ile4438Leu
XM_005250031.4:c.13147A>C XP_005250088.1:p.Ile4383Leu
XM_006716077.3:c.13309A>C XP_006716140.1:p.Ile4437Leu
XM_006716078.3:c.13240A>C XP_006716141.1:p.Ile4414Leu
XM_006716079.3:c.13144A>C XP_006716142.1:p.Ile4382Leu
XM_011516450.2:c.13264A>C XP_011514752.1:p.Ile4422Leu
XM_011516451.2:c.13192A>C XP_011514753.1:p.Ile4398Leu
XM_011516452.2:c.13159A>C XP_011514754.1:p.Ile4387Leu
XM_011516453.2:c.13075A>C XP_011514755.1:p.Ile4359Leu
XM_011516454.2:c.12397A>C XP_011514756.1:p.Ile4133Leu
XM_011516456.2:c.13264A>C XP_011514758.1:p.Ile4422Leu
XM_017012480.1:c.13312A>C XP_016867969.1:p.Ile4438Leu
XM_017012481.1:c.13309A>C XP_016867970.1:p.Ile4437Leu
XM_017012482.1:c.13309A>C XP_016867971.1:p.Ile4437Leu
XM_017012483.1:c.13309A>C XP_016867972.1:p.Ile4437Leu
XM_017012484.1:c.13279A>C XP_016867973.1:p.Ile4427Leu
XM_017012485.1:c.13261A>C XP_016867974.1:p.Ile4421Leu
XM_017012486.1:c.13237A>C XP_016867975.1:p.Ile4413Leu
XM_017012487.1:c.13165A>C XP_016867976.1:p.Ile4389Leu
XM_017012488.1:c.13129A>C XP_016867977.1:p.Ile4377Leu
XM_017012489.1:c.9982A>C XP_016867978.1:p.Ile3328Leu
XM_017012490.2:c.9586A>C XP_016867979.1:p.Ile3196Leu
XM_024446852.1:c.13309A>C XP_024302620.1:p.Ile4437Leu
XM_024446853.1:c.13237A>C XP_024302621.1:p.Ile4413Leu
NM_170606.3:c.13096A>C MANE Select NP_733751.2:p.Ile4366Leu