Canonical Allele Identifier: CA370093040
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148785T>C , CM000669.2:g.152148785T>C GRCh38
NC_000007.13:g.151845870T>C , CM000669.1:g.151845870T>C GRCh37
NC_000007.12:g.151476803T>C NCBI36
NG_033948.1:g.292221A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1330A>G
ENST00000682116.1:n.2274A>G
ENST00000682283.1:c.13313A>G ENSP00000507485.1:p.Glu4438Gly
ENST00000682629.1:n.2442A>G
ENST00000683120.1:n.8334A>G
ENST00000683178.1:c.3715A>G
ENST00000683200.1:c.10652A>G ENSP00000508052.1:p.Glu3551Gly
ENST00000683337.1:n.4772A>G
ENST00000683502.1:c.3787A>G
ENST00000683621.1:n.1908A>G
ENST00000683640.1:n.1858A>G
ENST00000684069.1:c.1559A>G ENSP00000507650.1:p.Glu520Gly
ENST00000684261.1:c.8039A>G ENSP00000508097.1:p.Glu2680Gly
ENST00000684649.1:c.3787A>G
ENST00000262189.11:c.13142A>G MANE Select ENSP00000262189.6:p.Glu4381Gly
ENST00000360104.8:c.8929A>G
ENST00000418061.2:c.3784A>G
ENST00000424877.6:c.3718A>G
ENST00000679393.1:n.7853A>G
ENST00000679560.1:c.8042A>G ENSP00000505094.1:p.Glu2681Gly
ENST00000679882.1:c.12707A>G ENSP00000506154.1:p.Glu4236Gly
ENST00000680029.1:c.3719A>G
ENST00000680877.1:c.8042A>G ENSP00000505724.1:p.Glu2681Gly
ENST00000681923.1:n.2157A>G
ENST00000262189.10:c.13142A>G ENSP00000262189.6:p.Glu4381Gly
ENST00000355193.6:c.13142A>G ENSP00000347325.3:p.Glu4381Gly
ENST00000360104.7:c.5823A>G
ENST00000424877.5:c.2993A>G ENSP00000410411.1:p.Glu998Gly
ENST00000473186.5:n.11024A>G
ENST00000558084.5:c.*10662A>G ENSP00000453752.1:n.*10662A>G
NM_170606.2:c.13142A>G NP_733751.2:p.Glu4381Gly
XM_005250025.3:c.13358A>G XP_005250082.1:p.Glu4453Gly
XM_005250026.2:c.13355A>G XP_005250083.1:p.Glu4452Gly
XM_005250027.3:c.13355A>G XP_005250084.1:p.Glu4452Gly
XM_005250028.3:c.13358A>G XP_005250085.1:p.Glu4453Gly
XM_005250031.3:c.13193A>G XP_005250088.1:p.Glu4398Gly
XM_006716077.2:c.13355A>G XP_006716140.1:p.Glu4452Gly
XM_006716078.2:c.13286A>G XP_006716141.1:p.Glu4429Gly
XM_006716079.2:c.13190A>G XP_006716142.1:p.Glu4397Gly
XM_011516450.1:c.13310A>G XP_011514752.1:p.Glu4437Gly
XM_011516451.1:c.13238A>G XP_011514753.1:p.Glu4413Gly
XM_011516452.1:c.13205A>G XP_011514754.1:p.Glu4402Gly
XM_011516453.1:c.13121A>G XP_011514755.1:p.Glu4374Gly
XM_011516454.1:c.12443A>G XP_011514756.1:p.Glu4148Gly
XM_011516455.1:c.10904A>G XP_011514757.1:p.Glu3635Gly
XM_011516456.1:c.13310A>G XP_011514758.1:p.Glu4437Gly
XM_005250025.4:c.13358A>G XP_005250082.1:p.Glu4453Gly
XM_005250026.3:c.13355A>G XP_005250083.1:p.Glu4452Gly
XM_005250027.4:c.13355A>G XP_005250084.1:p.Glu4452Gly
XM_005250028.4:c.13358A>G XP_005250085.1:p.Glu4453Gly
XM_005250031.4:c.13193A>G XP_005250088.1:p.Glu4398Gly
XM_006716077.3:c.13355A>G XP_006716140.1:p.Glu4452Gly
XM_006716078.3:c.13286A>G XP_006716141.1:p.Glu4429Gly
XM_006716079.3:c.13190A>G XP_006716142.1:p.Glu4397Gly
XM_011516450.2:c.13310A>G XP_011514752.1:p.Glu4437Gly
XM_011516451.2:c.13238A>G XP_011514753.1:p.Glu4413Gly
XM_011516452.2:c.13205A>G XP_011514754.1:p.Glu4402Gly
XM_011516453.2:c.13121A>G XP_011514755.1:p.Glu4374Gly
XM_011516454.2:c.12443A>G XP_011514756.1:p.Glu4148Gly
XM_011516456.2:c.13310A>G XP_011514758.1:p.Glu4437Gly
XM_017012480.1:c.13358A>G XP_016867969.1:p.Glu4453Gly
XM_017012481.1:c.13355A>G XP_016867970.1:p.Glu4452Gly
XM_017012482.1:c.13355A>G XP_016867971.1:p.Glu4452Gly
XM_017012483.1:c.13355A>G XP_016867972.1:p.Glu4452Gly
XM_017012484.1:c.13325A>G XP_016867973.1:p.Glu4442Gly
XM_017012485.1:c.13307A>G XP_016867974.1:p.Glu4436Gly
XM_017012486.1:c.13283A>G XP_016867975.1:p.Glu4428Gly
XM_017012487.1:c.13211A>G XP_016867976.1:p.Glu4404Gly
XM_017012488.1:c.13175A>G XP_016867977.1:p.Glu4392Gly
XM_017012489.1:c.10028A>G XP_016867978.1:p.Glu3343Gly
XM_017012490.2:c.9632A>G XP_016867979.1:p.Glu3211Gly
XM_024446852.1:c.13355A>G XP_024302620.1:p.Glu4452Gly
XM_024446853.1:c.13283A>G XP_024302621.1:p.Glu4428Gly
NM_170606.3:c.13142A>G MANE Select NP_733751.2:p.Glu4381Gly