Canonical Allele Identifier: CA4578664

Gene: KMT2C

Linked Data

• ClinVar Variation Id: 2152823
• ClinVar RCV Id: RCV003085353
• dbSNP Id: rs763456325
• ExAC: 7:151845869 T / C
• gnomAD v2: 7-151845869-T-C
• gnomAD v3: 7-152148784-T-C
• gnomAD v4: 7-152148784-T-C
• MyVariant Identifiers: chr7:g.151845869T>C (hg19) ; chr7:g.152148784T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148784T>C , CM000669.2:g.152148784T>C	GRCh38
NC_000007.13:g.151845869T>C , CM000669.1:g.151845869T>C	GRCh37
NC_000007.12:g.151476802T>C	NCBI36
NG_033948.1:g.292222A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1331A>G
ENST00000682116.1:n.2275A>G
ENST00000682283.1:c.13314A>G	ENSP00000507485.1:p.Glu4438=
ENST00000682629.1:n.2443A>G
ENST00000683120.1:n.8335A>G
ENST00000683178.1:c.3716A>G
ENST00000683200.1:c.10653A>G	ENSP00000508052.1:p.Glu3551=
ENST00000683337.1:n.4773A>G
ENST00000683502.1:c.3788A>G
ENST00000683621.1:n.1909A>G
ENST00000683640.1:n.1859A>G
ENST00000684069.1:c.1560A>G	ENSP00000507650.1:p.Glu520=
ENST00000684261.1:c.8040A>G	ENSP00000508097.1:p.Glu2680=
ENST00000684649.1:c.3788A>G
ENST00000262189.11:c.13143A>G MANE Select	ENSP00000262189.6:p.Glu4381=
ENST00000360104.8:c.8930A>G
ENST00000418061.2:c.3785A>G
ENST00000424877.6:c.3719A>G
ENST00000679393.1:n.7854A>G
ENST00000679560.1:c.8043A>G	ENSP00000505094.1:p.Glu2681=
ENST00000679882.1:c.12708A>G	ENSP00000506154.1:p.Glu4236=
ENST00000680029.1:c.3720A>G
ENST00000680877.1:c.8043A>G	ENSP00000505724.1:p.Glu2681=
ENST00000681923.1:n.2158A>G
ENST00000262189.10:c.13143A>G	ENSP00000262189.6:p.Glu4381=
ENST00000355193.6:c.13143A>G	ENSP00000347325.3:p.Glu4381=
ENST00000360104.7:c.5824A>G
ENST00000424877.5:c.2994A>G	ENSP00000410411.1:p.Glu998=
ENST00000473186.5:n.11025A>G
ENST00000558084.5:c.*10663A>G	ENSP00000453752.1:n.*10663A>G
NM_170606.2:c.13143A>G	NP_733751.2:p.Glu4381=
XM_005250025.3:c.13359A>G	XP_005250082.1:p.Glu4453=
XM_005250026.2:c.13356A>G	XP_005250083.1:p.Glu4452=
XM_005250027.3:c.13356A>G	XP_005250084.1:p.Glu4452=
XM_005250028.3:c.13359A>G	XP_005250085.1:p.Glu4453=
XM_005250031.3:c.13194A>G	XP_005250088.1:p.Glu4398=
XM_006716077.2:c.13356A>G	XP_006716140.1:p.Glu4452=
XM_006716078.2:c.13287A>G	XP_006716141.1:p.Glu4429=
XM_006716079.2:c.13191A>G	XP_006716142.1:p.Glu4397=
XM_011516450.1:c.13311A>G	XP_011514752.1:p.Glu4437=
XM_011516451.1:c.13239A>G	XP_011514753.1:p.Glu4413=
XM_011516452.1:c.13206A>G	XP_011514754.1:p.Glu4402=
XM_011516453.1:c.13122A>G	XP_011514755.1:p.Glu4374=
XM_011516454.1:c.12444A>G	XP_011514756.1:p.Glu4148=
XM_011516455.1:c.10905A>G	XP_011514757.1:p.Glu3635=
XM_011516456.1:c.13311A>G	XP_011514758.1:p.Glu4437=
XM_005250025.4:c.13359A>G	XP_005250082.1:p.Glu4453=
XM_005250026.3:c.13356A>G	XP_005250083.1:p.Glu4452=
XM_005250027.4:c.13356A>G	XP_005250084.1:p.Glu4452=
XM_005250028.4:c.13359A>G	XP_005250085.1:p.Glu4453=
XM_005250031.4:c.13194A>G	XP_005250088.1:p.Glu4398=
XM_006716077.3:c.13356A>G	XP_006716140.1:p.Glu4452=
XM_006716078.3:c.13287A>G	XP_006716141.1:p.Glu4429=
XM_006716079.3:c.13191A>G	XP_006716142.1:p.Glu4397=
XM_011516450.2:c.13311A>G	XP_011514752.1:p.Glu4437=
XM_011516451.2:c.13239A>G	XP_011514753.1:p.Glu4413=
XM_011516452.2:c.13206A>G	XP_011514754.1:p.Glu4402=
XM_011516453.2:c.13122A>G	XP_011514755.1:p.Glu4374=
XM_011516454.2:c.12444A>G	XP_011514756.1:p.Glu4148=
XM_011516456.2:c.13311A>G	XP_011514758.1:p.Glu4437=
XM_017012480.1:c.13359A>G	XP_016867969.1:p.Glu4453=
XM_017012481.1:c.13356A>G	XP_016867970.1:p.Glu4452=
XM_017012482.1:c.13356A>G	XP_016867971.1:p.Glu4452=
XM_017012483.1:c.13356A>G	XP_016867972.1:p.Glu4452=
XM_017012484.1:c.13326A>G	XP_016867973.1:p.Glu4442=
XM_017012485.1:c.13308A>G	XP_016867974.1:p.Glu4436=
XM_017012486.1:c.13284A>G	XP_016867975.1:p.Glu4428=
XM_017012487.1:c.13212A>G	XP_016867976.1:p.Glu4404=
XM_017012488.1:c.13176A>G	XP_016867977.1:p.Glu4392=
XM_017012489.1:c.10029A>G	XP_016867978.1:p.Glu3343=
XM_017012490.2:c.9633A>G	XP_016867979.1:p.Glu3211=
XM_024446852.1:c.13356A>G	XP_024302620.1:p.Glu4452=
XM_024446853.1:c.13284A>G	XP_024302621.1:p.Glu4428=
NM_170606.3:c.13143A>G MANE Select	NP_733751.2:p.Glu4381=