Canonical Allele Identifier: CA370091839
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148680G>A , CM000669.2:g.152148680G>A GRCh38
NC_000007.13:g.151845765G>A , CM000669.1:g.151845765G>A GRCh37
NC_000007.12:g.151476698G>A NCBI36
NG_033948.1:g.292326C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1435C>T
ENST00000682116.1:n.2379C>T
ENST00000682283.1:c.13418C>T ENSP00000507485.1:p.Pro4473Leu
ENST00000682629.1:n.2547C>T
ENST00000683120.1:n.8439C>T
ENST00000683178.1:c.3820C>T
ENST00000683200.1:c.10757C>T ENSP00000508052.1:p.Pro3586Leu
ENST00000683337.1:n.4877C>T
ENST00000683502.1:c.3892C>T
ENST00000683621.1:n.2013C>T
ENST00000683640.1:n.1963C>T
ENST00000684069.1:c.1664C>T ENSP00000507650.1:p.Pro555Leu
ENST00000684261.1:c.8144C>T ENSP00000508097.1:p.Pro2715Leu
ENST00000684391.1:n.5C>T
ENST00000684649.1:c.3892C>T
ENST00000262189.11:c.13247C>T MANE Select ENSP00000262189.6:p.Pro4416Leu
ENST00000360104.8:c.9034C>T
ENST00000418061.2:c.3889C>T
ENST00000424877.6:c.3823C>T
ENST00000679393.1:n.7958C>T
ENST00000679560.1:c.8147C>T ENSP00000505094.1:p.Pro2716Leu
ENST00000679882.1:c.12812C>T ENSP00000506154.1:p.Pro4271Leu
ENST00000680029.1:c.3824C>T
ENST00000680877.1:c.8147C>T ENSP00000505724.1:p.Pro2716Leu
ENST00000681923.1:n.2262C>T
ENST00000262189.10:c.13247C>T ENSP00000262189.6:p.Pro4416Leu
ENST00000355193.6:c.13247C>T ENSP00000347325.3:p.Pro4416Leu
ENST00000360104.7:c.5928C>T
ENST00000424877.5:c.3098C>T ENSP00000410411.1:p.Pro1033Leu
ENST00000473186.5:n.11129C>T
ENST00000558084.5:c.*10767C>T ENSP00000453752.1:n.*10767C>T
NM_170606.2:c.13247C>T NP_733751.2:p.Pro4416Leu
XM_005250025.3:c.13463C>T XP_005250082.1:p.Pro4488Leu
XM_005250026.2:c.13460C>T XP_005250083.1:p.Pro4487Leu
XM_005250027.3:c.13460C>T XP_005250084.1:p.Pro4487Leu
XM_005250028.3:c.13463C>T XP_005250085.1:p.Pro4488Leu
XM_005250031.3:c.13298C>T XP_005250088.1:p.Pro4433Leu
XM_006716077.2:c.13460C>T XP_006716140.1:p.Pro4487Leu
XM_006716078.2:c.13391C>T XP_006716141.1:p.Pro4464Leu
XM_006716079.2:c.13295C>T XP_006716142.1:p.Pro4432Leu
XM_011516450.1:c.13415C>T XP_011514752.1:p.Pro4472Leu
XM_011516451.1:c.13343C>T XP_011514753.1:p.Pro4448Leu
XM_011516452.1:c.13310C>T XP_011514754.1:p.Pro4437Leu
XM_011516453.1:c.13226C>T XP_011514755.1:p.Pro4409Leu
XM_011516454.1:c.12548C>T XP_011514756.1:p.Pro4183Leu
XM_011516455.1:c.11009C>T XP_011514757.1:p.Pro3670Leu
XM_011516456.1:c.13415C>T XP_011514758.1:p.Pro4472Leu
XM_005250025.4:c.13463C>T XP_005250082.1:p.Pro4488Leu
XM_005250026.3:c.13460C>T XP_005250083.1:p.Pro4487Leu
XM_005250027.4:c.13460C>T XP_005250084.1:p.Pro4487Leu
XM_005250028.4:c.13463C>T XP_005250085.1:p.Pro4488Leu
XM_005250031.4:c.13298C>T XP_005250088.1:p.Pro4433Leu
XM_006716077.3:c.13460C>T XP_006716140.1:p.Pro4487Leu
XM_006716078.3:c.13391C>T XP_006716141.1:p.Pro4464Leu
XM_006716079.3:c.13295C>T XP_006716142.1:p.Pro4432Leu
XM_011516450.2:c.13415C>T XP_011514752.1:p.Pro4472Leu
XM_011516451.2:c.13343C>T XP_011514753.1:p.Pro4448Leu
XM_011516452.2:c.13310C>T XP_011514754.1:p.Pro4437Leu
XM_011516453.2:c.13226C>T XP_011514755.1:p.Pro4409Leu
XM_011516454.2:c.12548C>T XP_011514756.1:p.Pro4183Leu
XM_011516456.2:c.13415C>T XP_011514758.1:p.Pro4472Leu
XM_017012480.1:c.13463C>T XP_016867969.1:p.Pro4488Leu
XM_017012481.1:c.13460C>T XP_016867970.1:p.Pro4487Leu
XM_017012482.1:c.13460C>T XP_016867971.1:p.Pro4487Leu
XM_017012483.1:c.13460C>T XP_016867972.1:p.Pro4487Leu
XM_017012484.1:c.13430C>T XP_016867973.1:p.Pro4477Leu
XM_017012485.1:c.13412C>T XP_016867974.1:p.Pro4471Leu
XM_017012486.1:c.13388C>T XP_016867975.1:p.Pro4463Leu
XM_017012487.1:c.13316C>T XP_016867976.1:p.Pro4439Leu
XM_017012488.1:c.13280C>T XP_016867977.1:p.Pro4427Leu
XM_017012489.1:c.10133C>T XP_016867978.1:p.Pro3378Leu
XM_017012490.2:c.9737C>T XP_016867979.1:p.Pro3246Leu
XM_024446852.1:c.13460C>T XP_024302620.1:p.Pro4487Leu
XM_024446853.1:c.13388C>T XP_024302621.1:p.Pro4463Leu
NM_170606.3:c.13247C>T MANE Select NP_733751.2:p.Pro4416Leu