Canonical Allele Identifier: CA160743

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152162404T>G , CM000669.2:g.152162404T>G	GRCh38
NC_000007.13:g.151859489T>G , CM000669.1:g.151859489T>G	GRCh37
NC_000007.12:g.151490422T>G	NCBI36
NG_033948.1:g.278602A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.11173A>C MANE Select	NP_733751.2:p.Thr3725Pro
ENST00000262189.11:c.11173A>C MANE Select	ENSP00000262189.6:p.Thr3725Pro
NM_170606.2:c.11173A>C	NP_733751.2:p.Thr3725Pro
ENST00000262189.10:c.11173A>C	ENSP00000262189.6:p.Thr3725Pro
ENST00000355193.6:c.11173A>C	ENSP00000347325.3:p.Thr3725Pro
ENST00000360104.7:c.3689A>C
ENST00000360104.8:c.6795A>C
ENST00000418061.2:c.1656A>C
ENST00000424877.5:c.931A>C	ENSP00000410411.1:p.Thr311Pro
ENST00000424877.6:c.1656A>C
ENST00000473186.5:n.8884A>C
ENST00000558084.5:c.*8693A>C	ENSP00000453752.1:n.*8693A>C
ENST00000679393.1:n.4664A>C
ENST00000679560.1:c.5908A>C	ENSP00000505094.1:p.Thr1970Pro
ENST00000679882.1:c.10948A>C	ENSP00000506154.1:p.Thr3650Pro
ENST00000680029.1:c.1656A>C
ENST00000680877.1:c.5908A>C	ENSP00000505724.1:p.Thr1970Pro
ENST00000680969.1:c.8569A>C	ENSP00000505951.1:p.Thr2857Pro
ENST00000681923.1:n.26A>C
ENST00000682283.1:c.11173A>C	ENSP00000507485.1:p.Thr3725Pro
ENST00000683120.1:n.3159A>C
ENST00000683178.1:c.1656A>C
ENST00000683200.1:c.8521A>C	ENSP00000508052.1:p.Thr2841Pro
ENST00000683397.1:c.5931A>C	ENSP00000507053.1:n.5931A>C
ENST00000683502.1:c.1656A>C
ENST00000683625.1:c.5386A>C	ENSP00000507769.1:p.Thr1796Pro
ENST00000683670.1:c.5908A>C	ENSP00000507634.1:p.Thr1970Pro
ENST00000684261.1:c.5908A>C	ENSP00000508097.1:p.Thr1970Pro
ENST00000684307.1:c.5844A>C	ENSP00000507202.1:n.5844A>C
ENST00000684398.1:c.5812A>C	ENSP00000507254.1:p.Thr1938Pro
ENST00000684649.1:c.1656A>C
XM_005250025.3:c.11224A>C	XP_005250082.1:p.Thr3742Pro
XM_005250025.4:c.11224A>C	XP_005250082.1:p.Thr3742Pro
XM_005250026.2:c.11221A>C	XP_005250083.1:p.Thr3741Pro
XM_005250026.3:c.11221A>C	XP_005250083.1:p.Thr3741Pro
XM_005250027.3:c.11224A>C	XP_005250084.1:p.Thr3742Pro
XM_005250027.4:c.11224A>C	XP_005250084.1:p.Thr3742Pro
XM_005250028.3:c.11224A>C	XP_005250085.1:p.Thr3742Pro
XM_005250028.4:c.11224A>C	XP_005250085.1:p.Thr3742Pro
XM_005250031.3:c.11224A>C	XP_005250088.1:p.Thr3742Pro
XM_005250031.4:c.11224A>C	XP_005250088.1:p.Thr3742Pro
XM_006716077.2:c.11224A>C	XP_006716140.1:p.Thr3742Pro
XM_006716077.3:c.11224A>C	XP_006716140.1:p.Thr3742Pro
XM_006716078.2:c.11224A>C	XP_006716141.1:p.Thr3742Pro
XM_006716078.3:c.11224A>C	XP_006716141.1:p.Thr3742Pro
XM_006716079.2:c.11224A>C	XP_006716142.1:p.Thr3742Pro
XM_006716079.3:c.11224A>C	XP_006716142.1:p.Thr3742Pro
XM_011516450.1:c.11176A>C	XP_011514752.1:p.Thr3726Pro
XM_011516450.2:c.11176A>C	XP_011514752.1:p.Thr3726Pro
XM_011516451.1:c.11104A>C	XP_011514753.1:p.Thr3702Pro
XM_011516451.2:c.11104A>C	XP_011514753.1:p.Thr3702Pro
XM_011516452.1:c.11071A>C	XP_011514754.1:p.Thr3691Pro
XM_011516452.2:c.11071A>C	XP_011514754.1:p.Thr3691Pro
XM_011516453.1:c.11224A>C	XP_011514755.1:p.Thr3742Pro
XM_011516453.2:c.11224A>C	XP_011514755.1:p.Thr3742Pro
XM_011516454.1:c.10309A>C	XP_011514756.1:p.Thr3437Pro
XM_011516454.2:c.10309A>C	XP_011514756.1:p.Thr3437Pro
XM_011516455.1:c.8770A>C	XP_011514757.1:p.Thr2924Pro
XM_011516456.1:c.11176A>C	XP_011514758.1:p.Thr3726Pro
XM_011516456.2:c.11176A>C	XP_011514758.1:p.Thr3726Pro
XM_017012480.1:c.11224A>C	XP_016867969.1:p.Thr3742Pro
XM_017012481.1:c.11221A>C	XP_016867970.1:p.Thr3741Pro
XM_017012482.1:c.11224A>C	XP_016867971.1:p.Thr3742Pro
XM_017012483.1:c.11224A>C	XP_016867972.1:p.Thr3742Pro
XM_017012484.1:c.11191A>C	XP_016867973.1:p.Thr3731Pro
XM_017012485.1:c.11173A>C	XP_016867974.1:p.Thr3725Pro
XM_017012486.1:c.11224A>C	XP_016867975.1:p.Thr3742Pro
XM_017012487.1:c.11077A>C	XP_016867976.1:p.Thr3693Pro
XM_017012488.1:c.11041A>C	XP_016867977.1:p.Thr3681Pro
XM_017012489.1:c.7894A>C	XP_016867978.1:p.Thr2632Pro
XM_017012490.2:c.7498A>C	XP_016867979.1:p.Thr2500Pro
XM_024446852.1:c.11221A>C	XP_024302620.1:p.Thr3741Pro
XM_024446853.1:c.11224A>C	XP_024302621.1:p.Thr3742Pro
XR_428183.2:n.11432A>C
XR_428183.3:n.11456A>C