Canonical Allele Identifier: CA169220924
Community Standard Title: NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148887G>A , CM000669.2:g.152148887G>A GRCh38
NC_000007.13:g.151845972G>A , CM000669.1:g.151845972G>A GRCh37
NC_000007.12:g.151476905G>A NCBI36
NG_033948.1:g.292119C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.13040C>T MANE Select NP_733751.2:p.Pro4347Leu
ENST00000262189.11:c.13040C>T MANE Select ENSP00000262189.6:p.Pro4347Leu
NM_170606.2:c.13040C>T NP_733751.2:p.Pro4347Leu
ENST00000262189.10:c.13040C>T ENSP00000262189.6:p.Pro4347Leu
ENST00000355193.6:c.13040C>T ENSP00000347325.3:p.Pro4347Leu
ENST00000360104.7:c.5721C>T
ENST00000360104.8:c.8827C>T
ENST00000418061.2:c.3682C>T
ENST00000424877.5:c.2891C>T ENSP00000410411.1:p.Pro964Leu
ENST00000424877.6:c.3616C>T
ENST00000473186.5:n.10922C>T
ENST00000558084.5:c.*10560C>T ENSP00000453752.1:n.*10560C>T
ENST00000679393.1:n.7751C>T
ENST00000679560.1:c.7940C>T ENSP00000505094.1:p.Pro2647Leu
ENST00000679882.1:c.12605C>T ENSP00000506154.1:p.Pro4202Leu
ENST00000680029.1:c.3617C>T
ENST00000680877.1:c.7940C>T ENSP00000505724.1:p.Pro2647Leu
ENST00000681923.1:n.2055C>T
ENST00000682040.1:c.1228C>T
ENST00000682116.1:n.2172C>T
ENST00000682283.1:c.13211C>T ENSP00000507485.1:p.Pro4404Leu
ENST00000682629.1:n.2340C>T
ENST00000683120.1:n.8232C>T
ENST00000683178.1:c.3613C>T
ENST00000683200.1:c.10550C>T ENSP00000508052.1:p.Pro3517Leu
ENST00000683337.1:n.4670C>T
ENST00000683502.1:c.3685C>T
ENST00000683621.1:n.1806C>T
ENST00000683640.1:n.1756C>T
ENST00000684069.1:c.1457C>T ENSP00000507650.1:p.Pro486Leu
ENST00000684261.1:c.7937C>T ENSP00000508097.1:p.Pro2646Leu
ENST00000684649.1:c.3685C>T
XM_005250025.3:c.13256C>T XP_005250082.1:p.Pro4419Leu
XM_005250025.4:c.13256C>T XP_005250082.1:p.Pro4419Leu
XM_005250026.2:c.13253C>T XP_005250083.1:p.Pro4418Leu
XM_005250026.3:c.13253C>T XP_005250083.1:p.Pro4418Leu
XM_005250027.3:c.13253C>T XP_005250084.1:p.Pro4418Leu
XM_005250027.4:c.13253C>T XP_005250084.1:p.Pro4418Leu
XM_005250028.3:c.13256C>T XP_005250085.1:p.Pro4419Leu
XM_005250028.4:c.13256C>T XP_005250085.1:p.Pro4419Leu
XM_005250031.3:c.13091C>T XP_005250088.1:p.Pro4364Leu
XM_005250031.4:c.13091C>T XP_005250088.1:p.Pro4364Leu
XM_006716077.2:c.13253C>T XP_006716140.1:p.Pro4418Leu
XM_006716077.3:c.13253C>T XP_006716140.1:p.Pro4418Leu
XM_006716078.2:c.13184C>T XP_006716141.1:p.Pro4395Leu
XM_006716078.3:c.13184C>T XP_006716141.1:p.Pro4395Leu
XM_006716079.2:c.13088C>T XP_006716142.1:p.Pro4363Leu
XM_006716079.3:c.13088C>T XP_006716142.1:p.Pro4363Leu
XM_011516450.1:c.13208C>T XP_011514752.1:p.Pro4403Leu
XM_011516450.2:c.13208C>T XP_011514752.1:p.Pro4403Leu
XM_011516451.1:c.13136C>T XP_011514753.1:p.Pro4379Leu
XM_011516451.2:c.13136C>T XP_011514753.1:p.Pro4379Leu
XM_011516452.1:c.13103C>T XP_011514754.1:p.Pro4368Leu
XM_011516452.2:c.13103C>T XP_011514754.1:p.Pro4368Leu
XM_011516453.1:c.13019C>T XP_011514755.1:p.Pro4340Leu
XM_011516453.2:c.13019C>T XP_011514755.1:p.Pro4340Leu
XM_011516454.1:c.12341C>T XP_011514756.1:p.Pro4114Leu
XM_011516454.2:c.12341C>T XP_011514756.1:p.Pro4114Leu
XM_011516455.1:c.10802C>T XP_011514757.1:p.Pro3601Leu
XM_011516456.1:c.13208C>T XP_011514758.1:p.Pro4403Leu
XM_011516456.2:c.13208C>T XP_011514758.1:p.Pro4403Leu
XM_017012480.1:c.13256C>T XP_016867969.1:p.Pro4419Leu
XM_017012481.1:c.13253C>T XP_016867970.1:p.Pro4418Leu
XM_017012482.1:c.13253C>T XP_016867971.1:p.Pro4418Leu
XM_017012483.1:c.13253C>T XP_016867972.1:p.Pro4418Leu
XM_017012484.1:c.13223C>T XP_016867973.1:p.Pro4408Leu
XM_017012485.1:c.13205C>T XP_016867974.1:p.Pro4402Leu
XM_017012486.1:c.13181C>T XP_016867975.1:p.Pro4394Leu
XM_017012487.1:c.13109C>T XP_016867976.1:p.Pro4370Leu
XM_017012488.1:c.13073C>T XP_016867977.1:p.Pro4358Leu
XM_017012489.1:c.9926C>T XP_016867978.1:p.Pro3309Leu
XM_017012490.2:c.9530C>T XP_016867979.1:p.Pro3177Leu
XM_024446852.1:c.13253C>T XP_024302620.1:p.Pro4418Leu
XM_024446853.1:c.13181C>T XP_024302621.1:p.Pro4394Leu