Canonical Allele Identifier: CA4579042
Community Standard Title: NM_170606.3(KMT2C):c.11651C>T (p.Thr3884Met)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152158882G>A , CM000669.2:g.152158882G>A GRCh38
NC_000007.13:g.151855967G>A , CM000669.1:g.151855967G>A GRCh37
NC_000007.12:g.151486900G>A NCBI36
NG_033948.1:g.282124C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.11651C>T MANE Select NP_733751.2:p.Thr3884Met
ENST00000262189.11:c.11651C>T MANE Select ENSP00000262189.6:p.Thr3884Met
NM_170606.2:c.11651C>T NP_733751.2:p.Thr3884Met
ENST00000262189.10:c.11651C>T ENSP00000262189.6:p.Thr3884Met
ENST00000355193.6:c.11651C>T ENSP00000347325.3:p.Thr3884Met
ENST00000360104.7:c.4167C>T
ENST00000360104.8:c.7273C>T
ENST00000418061.1:c.49-2536C>T ENSP00000408001.1:n.49-2536C>T
ENST00000418061.2:c.2134C>T
ENST00000424877.5:c.1409C>T ENSP00000410411.1:p.Thr470Met
ENST00000424877.6:c.2134C>T
ENST00000473186.5:n.9362C>T
ENST00000558084.5:c.*9171C>T ENSP00000453752.1:n.*9171C>T
ENST00000679393.1:n.5142C>T
ENST00000679560.1:c.6386C>T ENSP00000505094.1:p.Thr2129Met
ENST00000679882.1:c.11236-2536C>T ENSP00000506154.1:n.11236-2536C>T
ENST00000680029.1:c.2134C>T
ENST00000680877.1:c.6386C>T ENSP00000505724.1:p.Thr2129Met
ENST00000681923.1:n.504C>T
ENST00000682283.1:c.11651C>T ENSP00000507485.1:p.Thr3884Met
ENST00000683120.1:n.6681C>T
ENST00000683178.1:c.2134C>T
ENST00000683200.1:c.8999C>T ENSP00000508052.1:p.Thr3000Met
ENST00000683397.1:c.6409C>T ENSP00000507053.1:n.6409C>T
ENST00000683502.1:c.2134C>T
ENST00000683625.1:c.5864C>T ENSP00000507769.1:p.Thr1955Met
ENST00000683670.1:c.6437C>T ENSP00000507634.1:p.Thr2146Met
ENST00000683886.1:n.1247C>T
ENST00000684261.1:c.6386C>T ENSP00000508097.1:p.Thr2129Met
ENST00000684307.1:c.6322C>T ENSP00000507202.1:n.6322C>T
ENST00000684398.1:c.6290C>T ENSP00000507254.1:p.Thr2097Met
ENST00000684649.1:c.2134C>T
XM_005250025.3:c.11702C>T XP_005250082.1:p.Thr3901Met
XM_005250025.4:c.11702C>T XP_005250082.1:p.Thr3901Met
XM_005250026.2:c.11699C>T XP_005250083.1:p.Thr3900Met
XM_005250026.3:c.11699C>T XP_005250083.1:p.Thr3900Met
XM_005250027.3:c.11702C>T XP_005250084.1:p.Thr3901Met
XM_005250027.4:c.11702C>T XP_005250084.1:p.Thr3901Met
XM_005250028.3:c.11702C>T XP_005250085.1:p.Thr3901Met
XM_005250028.4:c.11702C>T XP_005250085.1:p.Thr3901Met
XM_005250031.3:c.11702C>T XP_005250088.1:p.Thr3901Met
XM_005250031.4:c.11702C>T XP_005250088.1:p.Thr3901Met
XM_006716077.2:c.11702C>T XP_006716140.1:p.Thr3901Met
XM_006716077.3:c.11702C>T XP_006716140.1:p.Thr3901Met
XM_006716078.2:c.11702C>T XP_006716141.1:p.Thr3901Met
XM_006716078.3:c.11702C>T XP_006716141.1:p.Thr3901Met
XM_006716079.2:c.11702C>T XP_006716142.1:p.Thr3901Met
XM_006716079.3:c.11702C>T XP_006716142.1:p.Thr3901Met
XM_011516450.1:c.11654C>T XP_011514752.1:p.Thr3885Met
XM_011516450.2:c.11654C>T XP_011514752.1:p.Thr3885Met
XM_011516451.1:c.11582C>T XP_011514753.1:p.Thr3861Met
XM_011516451.2:c.11582C>T XP_011514753.1:p.Thr3861Met
XM_011516452.1:c.11549C>T XP_011514754.1:p.Thr3850Met
XM_011516452.2:c.11549C>T XP_011514754.1:p.Thr3850Met
XM_011516453.1:c.11702C>T XP_011514755.1:p.Thr3901Met
XM_011516453.2:c.11702C>T XP_011514755.1:p.Thr3901Met
XM_011516454.1:c.10787C>T XP_011514756.1:p.Thr3596Met
XM_011516454.2:c.10787C>T XP_011514756.1:p.Thr3596Met
XM_011516455.1:c.9248C>T XP_011514757.1:p.Thr3083Met
XM_011516456.1:c.11654C>T XP_011514758.1:p.Thr3885Met
XM_011516456.2:c.11654C>T XP_011514758.1:p.Thr3885Met
XM_017012480.1:c.11702C>T XP_016867969.1:p.Thr3901Met
XM_017012481.1:c.11699C>T XP_016867970.1:p.Thr3900Met
XM_017012482.1:c.11702C>T XP_016867971.1:p.Thr3901Met
XM_017012483.1:c.11702C>T XP_016867972.1:p.Thr3901Met
XM_017012484.1:c.11669C>T XP_016867973.1:p.Thr3890Met
XM_017012485.1:c.11651C>T XP_016867974.1:p.Thr3884Met
XM_017012486.1:c.11702C>T XP_016867975.1:p.Thr3901Met
XM_017012487.1:c.11555C>T XP_016867976.1:p.Thr3852Met
XM_017012488.1:c.11519C>T XP_016867977.1:p.Thr3840Met
XM_017012489.1:c.8372C>T XP_016867978.1:p.Thr2791Met
XM_017012490.2:c.7976C>T XP_016867979.1:p.Thr2659Met
XM_024446852.1:c.11699C>T XP_024302620.1:p.Thr3900Met
XM_024446853.1:c.11702C>T XP_024302621.1:p.Thr3901Met
XR_428183.2:n.11910C>T
XR_428183.3:n.11934C>T