Canonical Allele Identifier: CA4580443
Community Standard Title: NM_170606.3(KMT2C):c.4721A>G (p.His1574Arg)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152187787T>C , CM000669.2:g.152187787T>C GRCh38
NC_000007.13:g.151884872T>C , CM000669.1:g.151884872T>C GRCh37
NC_000007.12:g.151515805T>C NCBI36
NG_033948.1:g.253219A>G

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.4721A>G MANE Select NP_733751.2:p.His1574Arg
ENST00000262189.11:c.4721A>G MANE Select ENSP00000262189.6:p.His1574Arg
NM_170606.2:c.4721A>G NP_733751.2:p.His1574Arg
ENST00000262189.10:c.4721A>G ENSP00000262189.6:p.His1574Arg
ENST00000355193.6:c.4721A>G ENSP00000347325.3:p.His1574Arg
ENST00000360104.8:c.343A>G
ENST00000473186.5:n.2432A>G
ENST00000558084.5:c.*2241A>G ENSP00000453752.1:n.*2241A>G
ENST00000679645.1:c.*814A>G ENSP00000505745.1:n.*814A>G
ENST00000679882.1:c.4496A>G ENSP00000506154.1:p.His1499Arg
ENST00000680969.1:c.2117A>G ENSP00000505951.1:p.His706Arg
ENST00000681033.1:c.3419A>G ENSP00000505058.1:p.His1140Arg
ENST00000681635.1:n.72A>G
ENST00000682176.1:c.1440A>G
ENST00000682283.1:c.4721A>G ENSP00000507485.1:p.His1574Arg
ENST00000683159.1:c.214A>G
ENST00000683200.1:c.2069A>G ENSP00000508052.1:p.His690Arg
XM_005250025.3:c.4772A>G XP_005250082.1:p.His1591Arg
XM_005250025.4:c.4772A>G XP_005250082.1:p.His1591Arg
XM_005250026.2:c.4769A>G XP_005250083.1:p.His1590Arg
XM_005250026.3:c.4769A>G XP_005250083.1:p.His1590Arg
XM_005250027.3:c.4772A>G XP_005250084.1:p.His1591Arg
XM_005250027.4:c.4772A>G XP_005250084.1:p.His1591Arg
XM_005250028.3:c.4772A>G XP_005250085.1:p.His1591Arg
XM_005250028.4:c.4772A>G XP_005250085.1:p.His1591Arg
XM_005250031.3:c.4772A>G XP_005250088.1:p.His1591Arg
XM_005250031.4:c.4772A>G XP_005250088.1:p.His1591Arg
XM_006716077.2:c.4772A>G XP_006716140.1:p.His1591Arg
XM_006716077.3:c.4772A>G XP_006716140.1:p.His1591Arg
XM_006716078.2:c.4772A>G XP_006716141.1:p.His1591Arg
XM_006716078.3:c.4772A>G XP_006716141.1:p.His1591Arg
XM_006716079.2:c.4772A>G XP_006716142.1:p.His1591Arg
XM_006716079.3:c.4772A>G XP_006716142.1:p.His1591Arg
XM_011516450.1:c.4724A>G XP_011514752.1:p.His1575Arg
XM_011516450.2:c.4724A>G XP_011514752.1:p.His1575Arg
XM_011516451.1:c.4652A>G XP_011514753.1:p.His1551Arg
XM_011516451.2:c.4652A>G XP_011514753.1:p.His1551Arg
XM_011516452.1:c.4619A>G XP_011514754.1:p.His1540Arg
XM_011516452.2:c.4619A>G XP_011514754.1:p.His1540Arg
XM_011516453.1:c.4772A>G XP_011514755.1:p.His1591Arg
XM_011516453.2:c.4772A>G XP_011514755.1:p.His1591Arg
XM_011516454.1:c.3857A>G XP_011514756.1:p.His1286Arg
XM_011516454.2:c.3857A>G XP_011514756.1:p.His1286Arg
XM_011516455.1:c.2318A>G XP_011514757.1:p.His773Arg
XM_011516456.1:c.4724A>G XP_011514758.1:p.His1575Arg
XM_011516456.2:c.4724A>G XP_011514758.1:p.His1575Arg
XM_017012480.1:c.4772A>G XP_016867969.1:p.His1591Arg
XM_017012481.1:c.4769A>G XP_016867970.1:p.His1590Arg
XM_017012482.1:c.4772A>G XP_016867971.1:p.His1591Arg
XM_017012483.1:c.4772A>G XP_016867972.1:p.His1591Arg
XM_017012484.1:c.4739A>G XP_016867973.1:p.His1580Arg
XM_017012485.1:c.4721A>G XP_016867974.1:p.His1574Arg
XM_017012486.1:c.4772A>G XP_016867975.1:p.His1591Arg
XM_017012487.1:c.4625A>G XP_016867976.1:p.His1542Arg
XM_017012488.1:c.4772A>G XP_016867977.1:p.His1591Arg
XM_017012489.1:c.1442A>G XP_016867978.1:p.His481Arg
XM_017012490.2:c.1046A>G XP_016867979.1:p.His349Arg
XM_024446852.1:c.4769A>G XP_024302620.1:p.His1590Arg
XM_024446853.1:c.4772A>G XP_024302621.1:p.His1591Arg
XR_428183.2:n.4980A>G
XR_428183.3:n.5004A>G