Canonical Allele Identifier: CA370093388

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845969A>C (hg19) ; chr7:g.152148884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148884A>C , CM000669.2:g.152148884A>C	GRCh38
NC_000007.13:g.151845969A>C , CM000669.1:g.151845969A>C	GRCh37
NC_000007.12:g.151476902A>C	NCBI36
NG_033948.1:g.292122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1231T>G
ENST00000682116.1:n.2175T>G
ENST00000682283.1:c.13214T>G	ENSP00000507485.1:p.Leu4405Arg
ENST00000682629.1:n.2343T>G
ENST00000683120.1:n.8235T>G
ENST00000683178.1:c.3616T>G
ENST00000683200.1:c.10553T>G	ENSP00000508052.1:p.Leu3518Arg
ENST00000683337.1:n.4673T>G
ENST00000683502.1:c.3688T>G
ENST00000683621.1:n.1809T>G
ENST00000683640.1:n.1759T>G
ENST00000684069.1:c.1460T>G	ENSP00000507650.1:p.Leu487Arg
ENST00000684261.1:c.7940T>G	ENSP00000508097.1:p.Leu2647Arg
ENST00000684649.1:c.3688T>G
ENST00000262189.11:c.13043T>G MANE Select	ENSP00000262189.6:p.Leu4348Arg
ENST00000360104.8:c.8830T>G
ENST00000418061.2:c.3685T>G
ENST00000424877.6:c.3619T>G
ENST00000679393.1:n.7754T>G
ENST00000679560.1:c.7943T>G	ENSP00000505094.1:p.Leu2648Arg
ENST00000679882.1:c.12608T>G	ENSP00000506154.1:p.Leu4203Arg
ENST00000680029.1:c.3620T>G
ENST00000680877.1:c.7943T>G	ENSP00000505724.1:p.Leu2648Arg
ENST00000681923.1:n.2058T>G
ENST00000262189.10:c.13043T>G	ENSP00000262189.6:p.Leu4348Arg
ENST00000355193.6:c.13043T>G	ENSP00000347325.3:p.Leu4348Arg
ENST00000360104.7:c.5724T>G
ENST00000424877.5:c.2894T>G	ENSP00000410411.1:p.Leu965Arg
ENST00000473186.5:n.10925T>G
ENST00000558084.5:c.*10563T>G	ENSP00000453752.1:n.*10563T>G
NM_170606.2:c.13043T>G	NP_733751.2:p.Leu4348Arg
XM_005250025.3:c.13259T>G	XP_005250082.1:p.Leu4420Arg
XM_005250026.2:c.13256T>G	XP_005250083.1:p.Leu4419Arg
XM_005250027.3:c.13256T>G	XP_005250084.1:p.Leu4419Arg
XM_005250028.3:c.13259T>G	XP_005250085.1:p.Leu4420Arg
XM_005250031.3:c.13094T>G	XP_005250088.1:p.Leu4365Arg
XM_006716077.2:c.13256T>G	XP_006716140.1:p.Leu4419Arg
XM_006716078.2:c.13187T>G	XP_006716141.1:p.Leu4396Arg
XM_006716079.2:c.13091T>G	XP_006716142.1:p.Leu4364Arg
XM_011516450.1:c.13211T>G	XP_011514752.1:p.Leu4404Arg
XM_011516451.1:c.13139T>G	XP_011514753.1:p.Leu4380Arg
XM_011516452.1:c.13106T>G	XP_011514754.1:p.Leu4369Arg
XM_011516453.1:c.13022T>G	XP_011514755.1:p.Leu4341Arg
XM_011516454.1:c.12344T>G	XP_011514756.1:p.Leu4115Arg
XM_011516455.1:c.10805T>G	XP_011514757.1:p.Leu3602Arg
XM_011516456.1:c.13211T>G	XP_011514758.1:p.Leu4404Arg
XM_005250025.4:c.13259T>G	XP_005250082.1:p.Leu4420Arg
XM_005250026.3:c.13256T>G	XP_005250083.1:p.Leu4419Arg
XM_005250027.4:c.13256T>G	XP_005250084.1:p.Leu4419Arg
XM_005250028.4:c.13259T>G	XP_005250085.1:p.Leu4420Arg
XM_005250031.4:c.13094T>G	XP_005250088.1:p.Leu4365Arg
XM_006716077.3:c.13256T>G	XP_006716140.1:p.Leu4419Arg
XM_006716078.3:c.13187T>G	XP_006716141.1:p.Leu4396Arg
XM_006716079.3:c.13091T>G	XP_006716142.1:p.Leu4364Arg
XM_011516450.2:c.13211T>G	XP_011514752.1:p.Leu4404Arg
XM_011516451.2:c.13139T>G	XP_011514753.1:p.Leu4380Arg
XM_011516452.2:c.13106T>G	XP_011514754.1:p.Leu4369Arg
XM_011516453.2:c.13022T>G	XP_011514755.1:p.Leu4341Arg
XM_011516454.2:c.12344T>G	XP_011514756.1:p.Leu4115Arg
XM_011516456.2:c.13211T>G	XP_011514758.1:p.Leu4404Arg
XM_017012480.1:c.13259T>G	XP_016867969.1:p.Leu4420Arg
XM_017012481.1:c.13256T>G	XP_016867970.1:p.Leu4419Arg
XM_017012482.1:c.13256T>G	XP_016867971.1:p.Leu4419Arg
XM_017012483.1:c.13256T>G	XP_016867972.1:p.Leu4419Arg
XM_017012484.1:c.13226T>G	XP_016867973.1:p.Leu4409Arg
XM_017012485.1:c.13208T>G	XP_016867974.1:p.Leu4403Arg
XM_017012486.1:c.13184T>G	XP_016867975.1:p.Leu4395Arg
XM_017012487.1:c.13112T>G	XP_016867976.1:p.Leu4371Arg
XM_017012488.1:c.13076T>G	XP_016867977.1:p.Leu4359Arg
XM_017012489.1:c.9929T>G	XP_016867978.1:p.Leu3310Arg
XM_017012490.2:c.9533T>G	XP_016867979.1:p.Leu3178Arg
XM_024446852.1:c.13256T>G	XP_024302620.1:p.Leu4419Arg
XM_024446853.1:c.13184T>G	XP_024302621.1:p.Leu4395Arg
NM_170606.3:c.13043T>G MANE Select	NP_733751.2:p.Leu4348Arg