Canonical Allele Identifier: CA370094926
Community Standard Title: NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152152816G>A , CM000669.2:g.152152816G>A GRCh38
NC_000007.13:g.151849901G>A , CM000669.1:g.151849901G>A GRCh37
NC_000007.12:g.151480834G>A NCBI36
NG_033948.1:g.288190C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.12415C>T MANE Select NP_733751.2:p.Arg4139Ter
ENST00000262189.11:c.12415C>T MANE Select ENSP00000262189.6:p.Arg4139Ter
NM_170606.2:c.12415C>T NP_733751.2:p.Arg4139Ter
ENST00000262189.10:c.12415C>T ENSP00000262189.6:p.Arg4139Ter
ENST00000355193.6:c.12415C>T ENSP00000347325.3:p.Arg4139Ter
ENST00000360104.7:c.5096C>T
ENST00000360104.8:c.8202C>T
ENST00000418061.2:c.3057C>T
ENST00000424877.5:c.2266C>T ENSP00000410411.1:p.Arg756Ter
ENST00000424877.6:c.2991C>T
ENST00000473186.5:n.10297C>T
ENST00000485241.2:n.552C>T
ENST00000558084.5:c.*9935C>T ENSP00000453752.1:n.*9935C>T
ENST00000679393.1:n.7126C>T
ENST00000679560.1:c.7315C>T ENSP00000505094.1:p.Arg2439Ter
ENST00000679882.1:c.11980C>T ENSP00000506154.1:p.Arg3994Ter
ENST00000680029.1:c.2992C>T
ENST00000680877.1:c.7315C>T ENSP00000505724.1:p.Arg2439Ter
ENST00000681923.1:n.1430C>T
ENST00000682040.1:c.603C>T
ENST00000682283.1:c.12586C>T ENSP00000507485.1:p.Arg4196Ter
ENST00000682629.1:n.158C>T
ENST00000683120.1:n.7607C>T
ENST00000683178.1:c.2988C>T
ENST00000683200.1:c.9925C>T ENSP00000508052.1:p.Arg3309Ter
ENST00000683337.1:n.4045C>T
ENST00000683502.1:c.3060C>T
ENST00000683640.1:n.8C>T
ENST00000683886.1:n.2173C>T
ENST00000684069.1:c.832C>T ENSP00000507650.1:p.Arg278Ter
ENST00000684261.1:c.7312C>T ENSP00000508097.1:p.Arg2438Ter
ENST00000684330.1:n.3373C>T
ENST00000684649.1:c.3060C>T
XM_005250025.3:c.12631C>T XP_005250082.1:p.Arg4211Ter
XM_005250025.4:c.12631C>T XP_005250082.1:p.Arg4211Ter
XM_005250026.2:c.12628C>T XP_005250083.1:p.Arg4210Ter
XM_005250026.3:c.12628C>T XP_005250083.1:p.Arg4210Ter
XM_005250027.3:c.12628C>T XP_005250084.1:p.Arg4210Ter
XM_005250027.4:c.12628C>T XP_005250084.1:p.Arg4210Ter
XM_005250028.3:c.12631C>T XP_005250085.1:p.Arg4211Ter
XM_005250028.4:c.12631C>T XP_005250085.1:p.Arg4211Ter
XM_005250031.3:c.12466C>T XP_005250088.1:p.Arg4156Ter
XM_005250031.4:c.12466C>T XP_005250088.1:p.Arg4156Ter
XM_006716077.2:c.12628C>T XP_006716140.1:p.Arg4210Ter
XM_006716077.3:c.12628C>T XP_006716140.1:p.Arg4210Ter
XM_006716078.2:c.12559C>T XP_006716141.1:p.Arg4187Ter
XM_006716078.3:c.12559C>T XP_006716141.1:p.Arg4187Ter
XM_006716079.2:c.12463C>T XP_006716142.1:p.Arg4155Ter
XM_006716079.3:c.12463C>T XP_006716142.1:p.Arg4155Ter
XM_011516450.1:c.12583C>T XP_011514752.1:p.Arg4195Ter
XM_011516450.2:c.12583C>T XP_011514752.1:p.Arg4195Ter
XM_011516451.1:c.12511C>T XP_011514753.1:p.Arg4171Ter
XM_011516451.2:c.12511C>T XP_011514753.1:p.Arg4171Ter
XM_011516452.1:c.12478C>T XP_011514754.1:p.Arg4160Ter
XM_011516452.2:c.12478C>T XP_011514754.1:p.Arg4160Ter
XM_011516453.1:c.12394C>T XP_011514755.1:p.Arg4132Ter
XM_011516453.2:c.12394C>T XP_011514755.1:p.Arg4132Ter
XM_011516454.1:c.11716C>T XP_011514756.1:p.Arg3906Ter
XM_011516454.2:c.11716C>T XP_011514756.1:p.Arg3906Ter
XM_011516455.1:c.10177C>T XP_011514757.1:p.Arg3393Ter
XM_011516456.1:c.12583C>T XP_011514758.1:p.Arg4195Ter
XM_011516456.2:c.12583C>T XP_011514758.1:p.Arg4195Ter
XM_017012480.1:c.12631C>T XP_016867969.1:p.Arg4211Ter
XM_017012481.1:c.12628C>T XP_016867970.1:p.Arg4210Ter
XM_017012482.1:c.12628C>T XP_016867971.1:p.Arg4210Ter
XM_017012483.1:c.12628C>T XP_016867972.1:p.Arg4210Ter
XM_017012484.1:c.12598C>T XP_016867973.1:p.Arg4200Ter
XM_017012485.1:c.12580C>T XP_016867974.1:p.Arg4194Ter
XM_017012486.1:c.12556C>T XP_016867975.1:p.Arg4186Ter
XM_017012487.1:c.12484C>T XP_016867976.1:p.Arg4162Ter
XM_017012488.1:c.12448C>T XP_016867977.1:p.Arg4150Ter
XM_017012489.1:c.9301C>T XP_016867978.1:p.Arg3101Ter
XM_017012490.2:c.8905C>T XP_016867979.1:p.Arg2969Ter
XM_024446852.1:c.12628C>T XP_024302620.1:p.Arg4210Ter
XM_024446853.1:c.12556C>T XP_024302621.1:p.Arg4186Ter