Canonical Allele Identifier: CA4579111

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152162172T>C , CM000669.2:g.152162172T>C	GRCh38
NC_000007.13:g.151859257T>C , CM000669.1:g.151859257T>C	GRCh37
NC_000007.12:g.151490190T>C	NCBI36
NG_033948.1:g.278834A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.11405A>G MANE Select	NP_733751.2:p.Asp3802Gly
ENST00000262189.11:c.11405A>G MANE Select	ENSP00000262189.6:p.Asp3802Gly
NM_170606.2:c.11405A>G	NP_733751.2:p.Asp3802Gly
ENST00000262189.10:c.11405A>G	ENSP00000262189.6:p.Asp3802Gly
ENST00000355193.6:c.11405A>G	ENSP00000347325.3:p.Asp3802Gly
ENST00000360104.7:c.3921A>G
ENST00000360104.8:c.7027A>G
ENST00000418061.2:c.1888A>G
ENST00000424877.5:c.1163A>G	ENSP00000410411.1:p.Asp388Gly
ENST00000424877.6:c.1888A>G
ENST00000473186.5:n.9116A>G
ENST00000558084.5:c.*8925A>G	ENSP00000453752.1:n.*8925A>G
ENST00000679393.1:n.4896A>G
ENST00000679560.1:c.6140A>G	ENSP00000505094.1:p.Asp2047Gly
ENST00000679882.1:c.11180A>G	ENSP00000506154.1:p.Asp3727Gly
ENST00000680029.1:c.1888A>G
ENST00000680877.1:c.6140A>G	ENSP00000505724.1:p.Asp2047Gly
ENST00000680969.1:c.8801A>G	ENSP00000505951.1:p.Asp2934Gly
ENST00000681923.1:n.258A>G
ENST00000682283.1:c.11405A>G	ENSP00000507485.1:p.Asp3802Gly
ENST00000683120.1:n.3391A>G
ENST00000683178.1:c.1888A>G
ENST00000683200.1:c.8753A>G	ENSP00000508052.1:p.Asp2918Gly
ENST00000683397.1:c.6163A>G	ENSP00000507053.1:n.6163A>G
ENST00000683502.1:c.1888A>G
ENST00000683625.1:c.5618A>G	ENSP00000507769.1:p.Asp1873Gly
ENST00000683670.1:c.6140A>G	ENSP00000507634.1:p.Asp2047Gly
ENST00000684261.1:c.6140A>G	ENSP00000508097.1:p.Asp2047Gly
ENST00000684307.1:c.6076A>G	ENSP00000507202.1:n.6076A>G
ENST00000684398.1:c.6044A>G	ENSP00000507254.1:p.Asp2015Gly
ENST00000684649.1:c.1888A>G
XM_005250025.3:c.11456A>G	XP_005250082.1:p.Asp3819Gly
XM_005250025.4:c.11456A>G	XP_005250082.1:p.Asp3819Gly
XM_005250026.2:c.11453A>G	XP_005250083.1:p.Asp3818Gly
XM_005250026.3:c.11453A>G	XP_005250083.1:p.Asp3818Gly
XM_005250027.3:c.11456A>G	XP_005250084.1:p.Asp3819Gly
XM_005250027.4:c.11456A>G	XP_005250084.1:p.Asp3819Gly
XM_005250028.3:c.11456A>G	XP_005250085.1:p.Asp3819Gly
XM_005250028.4:c.11456A>G	XP_005250085.1:p.Asp3819Gly
XM_005250031.3:c.11456A>G	XP_005250088.1:p.Asp3819Gly
XM_005250031.4:c.11456A>G	XP_005250088.1:p.Asp3819Gly
XM_006716077.2:c.11456A>G	XP_006716140.1:p.Asp3819Gly
XM_006716077.3:c.11456A>G	XP_006716140.1:p.Asp3819Gly
XM_006716078.2:c.11456A>G	XP_006716141.1:p.Asp3819Gly
XM_006716078.3:c.11456A>G	XP_006716141.1:p.Asp3819Gly
XM_006716079.2:c.11456A>G	XP_006716142.1:p.Asp3819Gly
XM_006716079.3:c.11456A>G	XP_006716142.1:p.Asp3819Gly
XM_011516450.1:c.11408A>G	XP_011514752.1:p.Asp3803Gly
XM_011516450.2:c.11408A>G	XP_011514752.1:p.Asp3803Gly
XM_011516451.1:c.11336A>G	XP_011514753.1:p.Asp3779Gly
XM_011516451.2:c.11336A>G	XP_011514753.1:p.Asp3779Gly
XM_011516452.1:c.11303A>G	XP_011514754.1:p.Asp3768Gly
XM_011516452.2:c.11303A>G	XP_011514754.1:p.Asp3768Gly
XM_011516453.1:c.11456A>G	XP_011514755.1:p.Asp3819Gly
XM_011516453.2:c.11456A>G	XP_011514755.1:p.Asp3819Gly
XM_011516454.1:c.10541A>G	XP_011514756.1:p.Asp3514Gly
XM_011516454.2:c.10541A>G	XP_011514756.1:p.Asp3514Gly
XM_011516455.1:c.9002A>G	XP_011514757.1:p.Asp3001Gly
XM_011516456.1:c.11408A>G	XP_011514758.1:p.Asp3803Gly
XM_011516456.2:c.11408A>G	XP_011514758.1:p.Asp3803Gly
XM_017012480.1:c.11456A>G	XP_016867969.1:p.Asp3819Gly
XM_017012481.1:c.11453A>G	XP_016867970.1:p.Asp3818Gly
XM_017012482.1:c.11456A>G	XP_016867971.1:p.Asp3819Gly
XM_017012483.1:c.11456A>G	XP_016867972.1:p.Asp3819Gly
XM_017012484.1:c.11423A>G	XP_016867973.1:p.Asp3808Gly
XM_017012485.1:c.11405A>G	XP_016867974.1:p.Asp3802Gly
XM_017012486.1:c.11456A>G	XP_016867975.1:p.Asp3819Gly
XM_017012487.1:c.11309A>G	XP_016867976.1:p.Asp3770Gly
XM_017012488.1:c.11273A>G	XP_016867977.1:p.Asp3758Gly
XM_017012489.1:c.8126A>G	XP_016867978.1:p.Asp2709Gly
XM_017012490.2:c.7730A>G	XP_016867979.1:p.Asp2577Gly
XM_024446852.1:c.11453A>G	XP_024302620.1:p.Asp3818Gly
XM_024446853.1:c.11456A>G	XP_024302621.1:p.Asp3819Gly
XR_428183.2:n.11664A>G
XR_428183.3:n.11688A>G