Canonical Allele Identifier: CA4579395
Community Standard Title: NM_170606.3(KMT2C):c.9823A>G (p.Met3275Val)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152163754T>C , CM000669.2:g.152163754T>C GRCh38
NC_000007.13:g.151860839T>C , CM000669.1:g.151860839T>C GRCh37
NC_000007.12:g.151491772T>C NCBI36
NG_033948.1:g.277252A>G

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.9823A>G MANE Select NP_733751.2:p.Met3275Val
ENST00000262189.11:c.9823A>G MANE Select ENSP00000262189.6:p.Met3275Val
NM_170606.2:c.9823A>G NP_733751.2:p.Met3275Val
ENST00000262189.10:c.9823A>G ENSP00000262189.6:p.Met3275Val
ENST00000355193.6:c.9823A>G ENSP00000347325.3:p.Met3275Val
ENST00000360104.7:c.2339A>G
ENST00000360104.8:c.5445A>G
ENST00000418061.2:c.306A>G
ENST00000424877.6:c.306A>G
ENST00000473186.5:n.7534A>G
ENST00000558084.5:c.*7343A>G ENSP00000453752.1:n.*7343A>G
ENST00000679393.1:n.3314A>G
ENST00000679560.1:c.4558A>G ENSP00000505094.1:p.Met1520Val
ENST00000679882.1:c.9598A>G ENSP00000506154.1:p.Met3200Val
ENST00000680029.1:c.306A>G
ENST00000680877.1:c.4558A>G ENSP00000505724.1:p.Met1520Val
ENST00000680969.1:c.7219A>G ENSP00000505951.1:p.Met2407Val
ENST00000682283.1:c.9823A>G ENSP00000507485.1:p.Met3275Val
ENST00000683120.1:n.1809A>G
ENST00000683178.1:c.306A>G
ENST00000683200.1:c.7171A>G ENSP00000508052.1:p.Met2391Val
ENST00000683397.1:c.4581A>G ENSP00000507053.1:n.4581A>G
ENST00000683502.1:c.306A>G
ENST00000683625.1:c.4558A>G ENSP00000507769.1:p.Met1520Val
ENST00000683670.1:c.4558A>G ENSP00000507634.1:p.Met1520Val
ENST00000684261.1:c.4558A>G ENSP00000508097.1:p.Met1520Val
ENST00000684307.1:c.4494A>G ENSP00000507202.1:n.4494A>G
ENST00000684398.1:c.4558A>G ENSP00000507254.1:p.Met1520Val
ENST00000684649.1:c.306A>G
XM_005250025.3:c.9874A>G XP_005250082.1:p.Met3292Val
XM_005250025.4:c.9874A>G XP_005250082.1:p.Met3292Val
XM_005250026.2:c.9871A>G XP_005250083.1:p.Met3291Val
XM_005250026.3:c.9871A>G XP_005250083.1:p.Met3291Val
XM_005250027.3:c.9874A>G XP_005250084.1:p.Met3292Val
XM_005250027.4:c.9874A>G XP_005250084.1:p.Met3292Val
XM_005250028.3:c.9874A>G XP_005250085.1:p.Met3292Val
XM_005250028.4:c.9874A>G XP_005250085.1:p.Met3292Val
XM_005250031.3:c.9874A>G XP_005250088.1:p.Met3292Val
XM_005250031.4:c.9874A>G XP_005250088.1:p.Met3292Val
XM_006716077.2:c.9874A>G XP_006716140.1:p.Met3292Val
XM_006716077.3:c.9874A>G XP_006716140.1:p.Met3292Val
XM_006716078.2:c.9874A>G XP_006716141.1:p.Met3292Val
XM_006716078.3:c.9874A>G XP_006716141.1:p.Met3292Val
XM_006716079.2:c.9874A>G XP_006716142.1:p.Met3292Val
XM_006716079.3:c.9874A>G XP_006716142.1:p.Met3292Val
XM_011516450.1:c.9826A>G XP_011514752.1:p.Met3276Val
XM_011516450.2:c.9826A>G XP_011514752.1:p.Met3276Val
XM_011516451.1:c.9754A>G XP_011514753.1:p.Met3252Val
XM_011516451.2:c.9754A>G XP_011514753.1:p.Met3252Val
XM_011516452.1:c.9721A>G XP_011514754.1:p.Met3241Val
XM_011516452.2:c.9721A>G XP_011514754.1:p.Met3241Val
XM_011516453.1:c.9874A>G XP_011514755.1:p.Met3292Val
XM_011516453.2:c.9874A>G XP_011514755.1:p.Met3292Val
XM_011516454.1:c.8959A>G XP_011514756.1:p.Met2987Val
XM_011516454.2:c.8959A>G XP_011514756.1:p.Met2987Val
XM_011516455.1:c.7420A>G XP_011514757.1:p.Met2474Val
XM_011516456.1:c.9826A>G XP_011514758.1:p.Met3276Val
XM_011516456.2:c.9826A>G XP_011514758.1:p.Met3276Val
XM_017012480.1:c.9874A>G XP_016867969.1:p.Met3292Val
XM_017012481.1:c.9871A>G XP_016867970.1:p.Met3291Val
XM_017012482.1:c.9874A>G XP_016867971.1:p.Met3292Val
XM_017012483.1:c.9874A>G XP_016867972.1:p.Met3292Val
XM_017012484.1:c.9841A>G XP_016867973.1:p.Met3281Val
XM_017012485.1:c.9823A>G XP_016867974.1:p.Met3275Val
XM_017012486.1:c.9874A>G XP_016867975.1:p.Met3292Val
XM_017012487.1:c.9727A>G XP_016867976.1:p.Met3243Val
XM_017012488.1:c.9691A>G XP_016867977.1:p.Met3231Val
XM_017012489.1:c.6544A>G XP_016867978.1:p.Met2182Val
XM_017012490.2:c.6148A>G XP_016867979.1:p.Met2050Val
XM_024446852.1:c.9871A>G XP_024302620.1:p.Met3291Val
XM_024446853.1:c.9874A>G XP_024302621.1:p.Met3292Val
XR_428183.2:n.10082A>G
XR_428183.3:n.10106A>G