Canonical Allele Identifier: CA370093300
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148860T>A , CM000669.2:g.152148860T>A GRCh38
NC_000007.13:g.151845945T>A , CM000669.1:g.151845945T>A GRCh37
NC_000007.12:g.151476878T>A NCBI36
NG_033948.1:g.292146A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1255A>T
ENST00000682116.1:n.2199A>T
ENST00000682283.1:c.13238A>T ENSP00000507485.1:p.Lys4413Ile
ENST00000682629.1:n.2367A>T
ENST00000683120.1:n.8259A>T
ENST00000683178.1:c.3640A>T
ENST00000683200.1:c.10577A>T ENSP00000508052.1:p.Lys3526Ile
ENST00000683337.1:n.4697A>T
ENST00000683502.1:c.3712A>T
ENST00000683621.1:n.1833A>T
ENST00000683640.1:n.1783A>T
ENST00000684069.1:c.1484A>T ENSP00000507650.1:p.Lys495Ile
ENST00000684261.1:c.7964A>T ENSP00000508097.1:p.Lys2655Ile
ENST00000684649.1:c.3712A>T
ENST00000262189.11:c.13067A>T MANE Select ENSP00000262189.6:p.Lys4356Ile
ENST00000360104.8:c.8854A>T
ENST00000418061.2:c.3709A>T
ENST00000424877.6:c.3643A>T
ENST00000679393.1:n.7778A>T
ENST00000679560.1:c.7967A>T ENSP00000505094.1:p.Lys2656Ile
ENST00000679882.1:c.12632A>T ENSP00000506154.1:p.Lys4211Ile
ENST00000680029.1:c.3644A>T
ENST00000680877.1:c.7967A>T ENSP00000505724.1:p.Lys2656Ile
ENST00000681923.1:n.2082A>T
ENST00000262189.10:c.13067A>T ENSP00000262189.6:p.Lys4356Ile
ENST00000355193.6:c.13067A>T ENSP00000347325.3:p.Lys4356Ile
ENST00000360104.7:c.5748A>T
ENST00000424877.5:c.2918A>T ENSP00000410411.1:p.Lys973Ile
ENST00000473186.5:n.10949A>T
ENST00000558084.5:c.*10587A>T ENSP00000453752.1:n.*10587A>T
NM_170606.2:c.13067A>T NP_733751.2:p.Lys4356Ile
XM_005250025.3:c.13283A>T XP_005250082.1:p.Lys4428Ile
XM_005250026.2:c.13280A>T XP_005250083.1:p.Lys4427Ile
XM_005250027.3:c.13280A>T XP_005250084.1:p.Lys4427Ile
XM_005250028.3:c.13283A>T XP_005250085.1:p.Lys4428Ile
XM_005250031.3:c.13118A>T XP_005250088.1:p.Lys4373Ile
XM_006716077.2:c.13280A>T XP_006716140.1:p.Lys4427Ile
XM_006716078.2:c.13211A>T XP_006716141.1:p.Lys4404Ile
XM_006716079.2:c.13115A>T XP_006716142.1:p.Lys4372Ile
XM_011516450.1:c.13235A>T XP_011514752.1:p.Lys4412Ile
XM_011516451.1:c.13163A>T XP_011514753.1:p.Lys4388Ile
XM_011516452.1:c.13130A>T XP_011514754.1:p.Lys4377Ile
XM_011516453.1:c.13046A>T XP_011514755.1:p.Lys4349Ile
XM_011516454.1:c.12368A>T XP_011514756.1:p.Lys4123Ile
XM_011516455.1:c.10829A>T XP_011514757.1:p.Lys3610Ile
XM_011516456.1:c.13235A>T XP_011514758.1:p.Lys4412Ile
XM_005250025.4:c.13283A>T XP_005250082.1:p.Lys4428Ile
XM_005250026.3:c.13280A>T XP_005250083.1:p.Lys4427Ile
XM_005250027.4:c.13280A>T XP_005250084.1:p.Lys4427Ile
XM_005250028.4:c.13283A>T XP_005250085.1:p.Lys4428Ile
XM_005250031.4:c.13118A>T XP_005250088.1:p.Lys4373Ile
XM_006716077.3:c.13280A>T XP_006716140.1:p.Lys4427Ile
XM_006716078.3:c.13211A>T XP_006716141.1:p.Lys4404Ile
XM_006716079.3:c.13115A>T XP_006716142.1:p.Lys4372Ile
XM_011516450.2:c.13235A>T XP_011514752.1:p.Lys4412Ile
XM_011516451.2:c.13163A>T XP_011514753.1:p.Lys4388Ile
XM_011516452.2:c.13130A>T XP_011514754.1:p.Lys4377Ile
XM_011516453.2:c.13046A>T XP_011514755.1:p.Lys4349Ile
XM_011516454.2:c.12368A>T XP_011514756.1:p.Lys4123Ile
XM_011516456.2:c.13235A>T XP_011514758.1:p.Lys4412Ile
XM_017012480.1:c.13283A>T XP_016867969.1:p.Lys4428Ile
XM_017012481.1:c.13280A>T XP_016867970.1:p.Lys4427Ile
XM_017012482.1:c.13280A>T XP_016867971.1:p.Lys4427Ile
XM_017012483.1:c.13280A>T XP_016867972.1:p.Lys4427Ile
XM_017012484.1:c.13250A>T XP_016867973.1:p.Lys4417Ile
XM_017012485.1:c.13232A>T XP_016867974.1:p.Lys4411Ile
XM_017012486.1:c.13208A>T XP_016867975.1:p.Lys4403Ile
XM_017012487.1:c.13136A>T XP_016867976.1:p.Lys4379Ile
XM_017012488.1:c.13100A>T XP_016867977.1:p.Lys4367Ile
XM_017012489.1:c.9953A>T XP_016867978.1:p.Lys3318Ile
XM_017012490.2:c.9557A>T XP_016867979.1:p.Lys3186Ile
XM_024446852.1:c.13280A>T XP_024302620.1:p.Lys4427Ile
XM_024446853.1:c.13208A>T XP_024302621.1:p.Lys4403Ile
NM_170606.3:c.13067A>T MANE Select NP_733751.2:p.Lys4356Ile