Canonical Allele Identifier: CA4580299

Gene: KMT2C

Linked Data

• dbSNP Id: rs757735325
• ExAC: 7:151880122 C / T
• gnomAD v2: 7-151880122-C-T
• gnomAD v4: 7-152183037-C-T
• MyVariant Identifiers: chr7:g.151880122C>T (hg19) ; chr7:g.152183037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183037C>T , CM000669.2:g.152183037C>T	GRCh38
NC_000007.13:g.151880122C>T , CM000669.1:g.151880122C>T	GRCh37
NC_000007.12:g.151511055C>T	NCBI36
NG_033948.1:g.257969G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682176.1:c.1921G>A
ENST00000682283.1:c.5202G>A	ENSP00000507485.1:p.Glu1734=
ENST00000683159.1:c.576-443G>A
ENST00000683200.1:c.2550G>A	ENSP00000508052.1:p.Glu850=
ENST00000262189.11:c.5202G>A MANE Select	ENSP00000262189.6:p.Glu1734=
ENST00000360104.8:c.824G>A
ENST00000679645.1:c.*1295G>A	ENSP00000505745.1:n.*1295G>A
ENST00000679882.1:c.4977G>A	ENSP00000506154.1:p.Glu1659=
ENST00000680969.1:c.2598G>A	ENSP00000505951.1:p.Glu866=
ENST00000681033.1:c.3900G>A	ENSP00000505058.1:p.Glu1300=
ENST00000681755.1:n.127G>A
ENST00000262189.10:c.5202G>A	ENSP00000262189.6:p.Glu1734=
ENST00000355193.6:c.5202G>A	ENSP00000347325.3:p.Glu1734=
ENST00000473186.5:n.2913G>A
ENST00000558084.5:c.*2722G>A	ENSP00000453752.1:n.*2722G>A
NM_170606.2:c.5202G>A	NP_733751.2:p.Glu1734=
XM_005250025.3:c.5253G>A	XP_005250082.1:p.Glu1751=
XM_005250026.2:c.5250G>A	XP_005250083.1:p.Glu1750=
XM_005250027.3:c.5253G>A	XP_005250084.1:p.Glu1751=
XM_005250028.3:c.5253G>A	XP_005250085.1:p.Glu1751=
XM_005250031.3:c.5253G>A	XP_005250088.1:p.Glu1751=
XM_006716077.2:c.5253G>A	XP_006716140.1:p.Glu1751=
XM_006716078.2:c.5253G>A	XP_006716141.1:p.Glu1751=
XM_006716079.2:c.5253G>A	XP_006716142.1:p.Glu1751=
XM_011516450.1:c.5205G>A	XP_011514752.1:p.Glu1735=
XM_011516451.1:c.5133G>A	XP_011514753.1:p.Glu1711=
XM_011516452.1:c.5100G>A	XP_011514754.1:p.Glu1700=
XM_011516453.1:c.5253G>A	XP_011514755.1:p.Glu1751=
XM_011516454.1:c.4338G>A	XP_011514756.1:p.Glu1446=
XM_011516455.1:c.2799G>A	XP_011514757.1:p.Glu933=
XM_011516456.1:c.5205G>A	XP_011514758.1:p.Glu1735=
XR_428183.2:n.5461G>A
XM_005250025.4:c.5253G>A	XP_005250082.1:p.Glu1751=
XM_005250026.3:c.5250G>A	XP_005250083.1:p.Glu1750=
XM_005250027.4:c.5253G>A	XP_005250084.1:p.Glu1751=
XM_005250028.4:c.5253G>A	XP_005250085.1:p.Glu1751=
XM_005250031.4:c.5253G>A	XP_005250088.1:p.Glu1751=
XM_006716077.3:c.5253G>A	XP_006716140.1:p.Glu1751=
XM_006716078.3:c.5253G>A	XP_006716141.1:p.Glu1751=
XM_006716079.3:c.5253G>A	XP_006716142.1:p.Glu1751=
XM_011516450.2:c.5205G>A	XP_011514752.1:p.Glu1735=
XM_011516451.2:c.5133G>A	XP_011514753.1:p.Glu1711=
XM_011516452.2:c.5100G>A	XP_011514754.1:p.Glu1700=
XM_011516453.2:c.5253G>A	XP_011514755.1:p.Glu1751=
XM_011516454.2:c.4338G>A	XP_011514756.1:p.Glu1446=
XM_011516456.2:c.5205G>A	XP_011514758.1:p.Glu1735=
XM_017012480.1:c.5253G>A	XP_016867969.1:p.Glu1751=
XM_017012481.1:c.5250G>A	XP_016867970.1:p.Glu1750=
XM_017012482.1:c.5253G>A	XP_016867971.1:p.Glu1751=
XM_017012483.1:c.5253G>A	XP_016867972.1:p.Glu1751=
XM_017012484.1:c.5220G>A	XP_016867973.1:p.Glu1740=
XM_017012485.1:c.5202G>A	XP_016867974.1:p.Glu1734=
XM_017012486.1:c.5253G>A	XP_016867975.1:p.Glu1751=
XM_017012487.1:c.5106G>A	XP_016867976.1:p.Glu1702=
XM_017012488.1:c.5134-443G>A	XP_016867977.1:n.5134-443G>A
XM_017012489.1:c.1923G>A	XP_016867978.1:p.Glu641=
XM_017012490.2:c.1527G>A	XP_016867979.1:p.Glu509=
XM_024446852.1:c.5250G>A	XP_024302620.1:p.Glu1750=
XM_024446853.1:c.5253G>A	XP_024302621.1:p.Glu1751=
XR_428183.3:n.5485G>A
NM_170606.3:c.5202G>A MANE Select	NP_733751.2:p.Glu1734=