Canonical Allele Identifier: CA370093247

Gene: KMT2C

Linked Data

• COSMIC: COSM3636454 ; COSM3636455
• MyVariant Identifiers: chr7:g.151845931T>A (hg19) ; chr7:g.152148846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148846T>A , CM000669.2:g.152148846T>A	GRCh38
NC_000007.13:g.151845931T>A , CM000669.1:g.151845931T>A	GRCh37
NC_000007.12:g.151476864T>A	NCBI36
NG_033948.1:g.292160A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1269A>T
ENST00000682116.1:n.2213A>T
ENST00000682283.1:c.13252A>T	ENSP00000507485.1:p.Ser4418Cys
ENST00000682629.1:n.2381A>T
ENST00000683120.1:n.8273A>T
ENST00000683178.1:c.3654A>T
ENST00000683200.1:c.10591A>T	ENSP00000508052.1:p.Ser3531Cys
ENST00000683337.1:n.4711A>T
ENST00000683502.1:c.3726A>T
ENST00000683621.1:n.1847A>T
ENST00000683640.1:n.1797A>T
ENST00000684069.1:c.1498A>T	ENSP00000507650.1:p.Ser500Cys
ENST00000684261.1:c.7978A>T	ENSP00000508097.1:p.Ser2660Cys
ENST00000684649.1:c.3726A>T
ENST00000262189.11:c.13081A>T MANE Select	ENSP00000262189.6:p.Ser4361Cys
ENST00000360104.8:c.8868A>T
ENST00000418061.2:c.3723A>T
ENST00000424877.6:c.3657A>T
ENST00000679393.1:n.7792A>T
ENST00000679560.1:c.7981A>T	ENSP00000505094.1:p.Ser2661Cys
ENST00000679882.1:c.12646A>T	ENSP00000506154.1:p.Ser4216Cys
ENST00000680029.1:c.3658A>T
ENST00000680877.1:c.7981A>T	ENSP00000505724.1:p.Ser2661Cys
ENST00000681923.1:n.2096A>T
ENST00000262189.10:c.13081A>T	ENSP00000262189.6:p.Ser4361Cys
ENST00000355193.6:c.13081A>T	ENSP00000347325.3:p.Ser4361Cys
ENST00000360104.7:c.5762A>T
ENST00000424877.5:c.2932A>T	ENSP00000410411.1:p.Ser978Cys
ENST00000473186.5:n.10963A>T
ENST00000558084.5:c.*10601A>T	ENSP00000453752.1:n.*10601A>T
NM_170606.2:c.13081A>T	NP_733751.2:p.Ser4361Cys
XM_005250025.3:c.13297A>T	XP_005250082.1:p.Ser4433Cys
XM_005250026.2:c.13294A>T	XP_005250083.1:p.Ser4432Cys
XM_005250027.3:c.13294A>T	XP_005250084.1:p.Ser4432Cys
XM_005250028.3:c.13297A>T	XP_005250085.1:p.Ser4433Cys
XM_005250031.3:c.13132A>T	XP_005250088.1:p.Ser4378Cys
XM_006716077.2:c.13294A>T	XP_006716140.1:p.Ser4432Cys
XM_006716078.2:c.13225A>T	XP_006716141.1:p.Ser4409Cys
XM_006716079.2:c.13129A>T	XP_006716142.1:p.Ser4377Cys
XM_011516450.1:c.13249A>T	XP_011514752.1:p.Ser4417Cys
XM_011516451.1:c.13177A>T	XP_011514753.1:p.Ser4393Cys
XM_011516452.1:c.13144A>T	XP_011514754.1:p.Ser4382Cys
XM_011516453.1:c.13060A>T	XP_011514755.1:p.Ser4354Cys
XM_011516454.1:c.12382A>T	XP_011514756.1:p.Ser4128Cys
XM_011516455.1:c.10843A>T	XP_011514757.1:p.Ser3615Cys
XM_011516456.1:c.13249A>T	XP_011514758.1:p.Ser4417Cys
XM_005250025.4:c.13297A>T	XP_005250082.1:p.Ser4433Cys
XM_005250026.3:c.13294A>T	XP_005250083.1:p.Ser4432Cys
XM_005250027.4:c.13294A>T	XP_005250084.1:p.Ser4432Cys
XM_005250028.4:c.13297A>T	XP_005250085.1:p.Ser4433Cys
XM_005250031.4:c.13132A>T	XP_005250088.1:p.Ser4378Cys
XM_006716077.3:c.13294A>T	XP_006716140.1:p.Ser4432Cys
XM_006716078.3:c.13225A>T	XP_006716141.1:p.Ser4409Cys
XM_006716079.3:c.13129A>T	XP_006716142.1:p.Ser4377Cys
XM_011516450.2:c.13249A>T	XP_011514752.1:p.Ser4417Cys
XM_011516451.2:c.13177A>T	XP_011514753.1:p.Ser4393Cys
XM_011516452.2:c.13144A>T	XP_011514754.1:p.Ser4382Cys
XM_011516453.2:c.13060A>T	XP_011514755.1:p.Ser4354Cys
XM_011516454.2:c.12382A>T	XP_011514756.1:p.Ser4128Cys
XM_011516456.2:c.13249A>T	XP_011514758.1:p.Ser4417Cys
XM_017012480.1:c.13297A>T	XP_016867969.1:p.Ser4433Cys
XM_017012481.1:c.13294A>T	XP_016867970.1:p.Ser4432Cys
XM_017012482.1:c.13294A>T	XP_016867971.1:p.Ser4432Cys
XM_017012483.1:c.13294A>T	XP_016867972.1:p.Ser4432Cys
XM_017012484.1:c.13264A>T	XP_016867973.1:p.Ser4422Cys
XM_017012485.1:c.13246A>T	XP_016867974.1:p.Ser4416Cys
XM_017012486.1:c.13222A>T	XP_016867975.1:p.Ser4408Cys
XM_017012487.1:c.13150A>T	XP_016867976.1:p.Ser4384Cys
XM_017012488.1:c.13114A>T	XP_016867977.1:p.Ser4372Cys
XM_017012489.1:c.9967A>T	XP_016867978.1:p.Ser3323Cys
XM_017012490.2:c.9571A>T	XP_016867979.1:p.Ser3191Cys
XM_024446852.1:c.13294A>T	XP_024302620.1:p.Ser4432Cys
XM_024446853.1:c.13222A>T	XP_024302621.1:p.Ser4408Cys
NM_170606.3:c.13081A>T MANE Select	NP_733751.2:p.Ser4361Cys