Canonical Allele Identifier: CA370093133
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148812T>A , CM000669.2:g.152148812T>A GRCh38
NC_000007.13:g.151845897T>A , CM000669.1:g.151845897T>A GRCh37
NC_000007.12:g.151476830T>A NCBI36
NG_033948.1:g.292194A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1303A>T
ENST00000682116.1:n.2247A>T
ENST00000682283.1:c.13286A>T ENSP00000507485.1:p.Lys4429Ile
ENST00000682629.1:n.2415A>T
ENST00000683120.1:n.8307A>T
ENST00000683178.1:c.3688A>T
ENST00000683200.1:c.10625A>T ENSP00000508052.1:p.Lys3542Ile
ENST00000683337.1:n.4745A>T
ENST00000683502.1:c.3760A>T
ENST00000683621.1:n.1881A>T
ENST00000683640.1:n.1831A>T
ENST00000684069.1:c.1532A>T ENSP00000507650.1:p.Lys511Ile
ENST00000684261.1:c.8012A>T ENSP00000508097.1:p.Lys2671Ile
ENST00000684649.1:c.3760A>T
ENST00000262189.11:c.13115A>T MANE Select ENSP00000262189.6:p.Lys4372Ile
ENST00000360104.8:c.8902A>T
ENST00000418061.2:c.3757A>T
ENST00000424877.6:c.3691A>T
ENST00000679393.1:n.7826A>T
ENST00000679560.1:c.8015A>T ENSP00000505094.1:p.Lys2672Ile
ENST00000679882.1:c.12680A>T ENSP00000506154.1:p.Lys4227Ile
ENST00000680029.1:c.3692A>T
ENST00000680877.1:c.8015A>T ENSP00000505724.1:p.Lys2672Ile
ENST00000681923.1:n.2130A>T
ENST00000262189.10:c.13115A>T ENSP00000262189.6:p.Lys4372Ile
ENST00000355193.6:c.13115A>T ENSP00000347325.3:p.Lys4372Ile
ENST00000360104.7:c.5796A>T
ENST00000424877.5:c.2966A>T ENSP00000410411.1:p.Lys989Ile
ENST00000473186.5:n.10997A>T
ENST00000558084.5:c.*10635A>T ENSP00000453752.1:n.*10635A>T
NM_170606.2:c.13115A>T NP_733751.2:p.Lys4372Ile
XM_005250025.3:c.13331A>T XP_005250082.1:p.Lys4444Ile
XM_005250026.2:c.13328A>T XP_005250083.1:p.Lys4443Ile
XM_005250027.3:c.13328A>T XP_005250084.1:p.Lys4443Ile
XM_005250028.3:c.13331A>T XP_005250085.1:p.Lys4444Ile
XM_005250031.3:c.13166A>T XP_005250088.1:p.Lys4389Ile
XM_006716077.2:c.13328A>T XP_006716140.1:p.Lys4443Ile
XM_006716078.2:c.13259A>T XP_006716141.1:p.Lys4420Ile
XM_006716079.2:c.13163A>T XP_006716142.1:p.Lys4388Ile
XM_011516450.1:c.13283A>T XP_011514752.1:p.Lys4428Ile
XM_011516451.1:c.13211A>T XP_011514753.1:p.Lys4404Ile
XM_011516452.1:c.13178A>T XP_011514754.1:p.Lys4393Ile
XM_011516453.1:c.13094A>T XP_011514755.1:p.Lys4365Ile
XM_011516454.1:c.12416A>T XP_011514756.1:p.Lys4139Ile
XM_011516455.1:c.10877A>T XP_011514757.1:p.Lys3626Ile
XM_011516456.1:c.13283A>T XP_011514758.1:p.Lys4428Ile
XM_005250025.4:c.13331A>T XP_005250082.1:p.Lys4444Ile
XM_005250026.3:c.13328A>T XP_005250083.1:p.Lys4443Ile
XM_005250027.4:c.13328A>T XP_005250084.1:p.Lys4443Ile
XM_005250028.4:c.13331A>T XP_005250085.1:p.Lys4444Ile
XM_005250031.4:c.13166A>T XP_005250088.1:p.Lys4389Ile
XM_006716077.3:c.13328A>T XP_006716140.1:p.Lys4443Ile
XM_006716078.3:c.13259A>T XP_006716141.1:p.Lys4420Ile
XM_006716079.3:c.13163A>T XP_006716142.1:p.Lys4388Ile
XM_011516450.2:c.13283A>T XP_011514752.1:p.Lys4428Ile
XM_011516451.2:c.13211A>T XP_011514753.1:p.Lys4404Ile
XM_011516452.2:c.13178A>T XP_011514754.1:p.Lys4393Ile
XM_011516453.2:c.13094A>T XP_011514755.1:p.Lys4365Ile
XM_011516454.2:c.12416A>T XP_011514756.1:p.Lys4139Ile
XM_011516456.2:c.13283A>T XP_011514758.1:p.Lys4428Ile
XM_017012480.1:c.13331A>T XP_016867969.1:p.Lys4444Ile
XM_017012481.1:c.13328A>T XP_016867970.1:p.Lys4443Ile
XM_017012482.1:c.13328A>T XP_016867971.1:p.Lys4443Ile
XM_017012483.1:c.13328A>T XP_016867972.1:p.Lys4443Ile
XM_017012484.1:c.13298A>T XP_016867973.1:p.Lys4433Ile
XM_017012485.1:c.13280A>T XP_016867974.1:p.Lys4427Ile
XM_017012486.1:c.13256A>T XP_016867975.1:p.Lys4419Ile
XM_017012487.1:c.13184A>T XP_016867976.1:p.Lys4395Ile
XM_017012488.1:c.13148A>T XP_016867977.1:p.Lys4383Ile
XM_017012489.1:c.10001A>T XP_016867978.1:p.Lys3334Ile
XM_017012490.2:c.9605A>T XP_016867979.1:p.Lys3202Ile
XM_024446852.1:c.13328A>T XP_024302620.1:p.Lys4443Ile
XM_024446853.1:c.13256A>T XP_024302621.1:p.Lys4419Ile
NM_170606.3:c.13115A>T MANE Select NP_733751.2:p.Lys4372Ile