Canonical Allele Identifier: CA370092942

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845840T>G (hg19) ; chr7:g.152148755T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148755T>G , CM000669.2:g.152148755T>G	GRCh38
NC_000007.13:g.151845840T>G , CM000669.1:g.151845840T>G	GRCh37
NC_000007.12:g.151476773T>G	NCBI36
NG_033948.1:g.292251A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1360A>C
ENST00000682116.1:n.2304A>C
ENST00000682283.1:c.13343A>C	ENSP00000507485.1:p.Lys4448Thr
ENST00000682629.1:n.2472A>C
ENST00000683120.1:n.8364A>C
ENST00000683178.1:c.3745A>C
ENST00000683200.1:c.10682A>C	ENSP00000508052.1:p.Lys3561Thr
ENST00000683337.1:n.4802A>C
ENST00000683502.1:c.3817A>C
ENST00000683621.1:n.1938A>C
ENST00000683640.1:n.1888A>C
ENST00000684069.1:c.1589A>C	ENSP00000507650.1:p.Lys530Thr
ENST00000684261.1:c.8069A>C	ENSP00000508097.1:p.Lys2690Thr
ENST00000684649.1:c.3817A>C
ENST00000262189.11:c.13172A>C MANE Select	ENSP00000262189.6:p.Lys4391Thr
ENST00000360104.8:c.8959A>C
ENST00000418061.2:c.3814A>C
ENST00000424877.6:c.3748A>C
ENST00000679393.1:n.7883A>C
ENST00000679560.1:c.8072A>C	ENSP00000505094.1:p.Lys2691Thr
ENST00000679882.1:c.12737A>C	ENSP00000506154.1:p.Lys4246Thr
ENST00000680029.1:c.3749A>C
ENST00000680877.1:c.8072A>C	ENSP00000505724.1:p.Lys2691Thr
ENST00000681923.1:n.2187A>C
ENST00000262189.10:c.13172A>C	ENSP00000262189.6:p.Lys4391Thr
ENST00000355193.6:c.13172A>C	ENSP00000347325.3:p.Lys4391Thr
ENST00000360104.7:c.5853A>C
ENST00000424877.5:c.3023A>C	ENSP00000410411.1:p.Lys1008Thr
ENST00000473186.5:n.11054A>C
ENST00000558084.5:c.*10692A>C	ENSP00000453752.1:n.*10692A>C
NM_170606.2:c.13172A>C	NP_733751.2:p.Lys4391Thr
XM_005250025.3:c.13388A>C	XP_005250082.1:p.Lys4463Thr
XM_005250026.2:c.13385A>C	XP_005250083.1:p.Lys4462Thr
XM_005250027.3:c.13385A>C	XP_005250084.1:p.Lys4462Thr
XM_005250028.3:c.13388A>C	XP_005250085.1:p.Lys4463Thr
XM_005250031.3:c.13223A>C	XP_005250088.1:p.Lys4408Thr
XM_006716077.2:c.13385A>C	XP_006716140.1:p.Lys4462Thr
XM_006716078.2:c.13316A>C	XP_006716141.1:p.Lys4439Thr
XM_006716079.2:c.13220A>C	XP_006716142.1:p.Lys4407Thr
XM_011516450.1:c.13340A>C	XP_011514752.1:p.Lys4447Thr
XM_011516451.1:c.13268A>C	XP_011514753.1:p.Lys4423Thr
XM_011516452.1:c.13235A>C	XP_011514754.1:p.Lys4412Thr
XM_011516453.1:c.13151A>C	XP_011514755.1:p.Lys4384Thr
XM_011516454.1:c.12473A>C	XP_011514756.1:p.Lys4158Thr
XM_011516455.1:c.10934A>C	XP_011514757.1:p.Lys3645Thr
XM_011516456.1:c.13340A>C	XP_011514758.1:p.Lys4447Thr
XM_005250025.4:c.13388A>C	XP_005250082.1:p.Lys4463Thr
XM_005250026.3:c.13385A>C	XP_005250083.1:p.Lys4462Thr
XM_005250027.4:c.13385A>C	XP_005250084.1:p.Lys4462Thr
XM_005250028.4:c.13388A>C	XP_005250085.1:p.Lys4463Thr
XM_005250031.4:c.13223A>C	XP_005250088.1:p.Lys4408Thr
XM_006716077.3:c.13385A>C	XP_006716140.1:p.Lys4462Thr
XM_006716078.3:c.13316A>C	XP_006716141.1:p.Lys4439Thr
XM_006716079.3:c.13220A>C	XP_006716142.1:p.Lys4407Thr
XM_011516450.2:c.13340A>C	XP_011514752.1:p.Lys4447Thr
XM_011516451.2:c.13268A>C	XP_011514753.1:p.Lys4423Thr
XM_011516452.2:c.13235A>C	XP_011514754.1:p.Lys4412Thr
XM_011516453.2:c.13151A>C	XP_011514755.1:p.Lys4384Thr
XM_011516454.2:c.12473A>C	XP_011514756.1:p.Lys4158Thr
XM_011516456.2:c.13340A>C	XP_011514758.1:p.Lys4447Thr
XM_017012480.1:c.13388A>C	XP_016867969.1:p.Lys4463Thr
XM_017012481.1:c.13385A>C	XP_016867970.1:p.Lys4462Thr
XM_017012482.1:c.13385A>C	XP_016867971.1:p.Lys4462Thr
XM_017012483.1:c.13385A>C	XP_016867972.1:p.Lys4462Thr
XM_017012484.1:c.13355A>C	XP_016867973.1:p.Lys4452Thr
XM_017012485.1:c.13337A>C	XP_016867974.1:p.Lys4446Thr
XM_017012486.1:c.13313A>C	XP_016867975.1:p.Lys4438Thr
XM_017012487.1:c.13241A>C	XP_016867976.1:p.Lys4414Thr
XM_017012488.1:c.13205A>C	XP_016867977.1:p.Lys4402Thr
XM_017012489.1:c.10058A>C	XP_016867978.1:p.Lys3353Thr
XM_017012490.2:c.9662A>C	XP_016867979.1:p.Lys3221Thr
XM_024446852.1:c.13385A>C	XP_024302620.1:p.Lys4462Thr
XM_024446853.1:c.13313A>C	XP_024302621.1:p.Lys4438Thr
NM_170606.3:c.13172A>C MANE Select	NP_733751.2:p.Lys4391Thr