Canonical Allele Identifier: CA370093033

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845868A>T (hg19) ; chr7:g.152148783A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148783A>T , CM000669.2:g.152148783A>T	GRCh38
NC_000007.13:g.151845868A>T , CM000669.1:g.151845868A>T	GRCh37
NC_000007.12:g.151476801A>T	NCBI36
NG_033948.1:g.292223T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1332T>A
ENST00000682116.1:n.2276T>A
ENST00000682283.1:c.13315T>A	ENSP00000507485.1:p.Phe4439Ile
ENST00000682629.1:n.2444T>A
ENST00000683120.1:n.8336T>A
ENST00000683178.1:c.3717T>A
ENST00000683200.1:c.10654T>A	ENSP00000508052.1:p.Phe3552Ile
ENST00000683337.1:n.4774T>A
ENST00000683502.1:c.3789T>A
ENST00000683621.1:n.1910T>A
ENST00000683640.1:n.1860T>A
ENST00000684069.1:c.1561T>A	ENSP00000507650.1:p.Phe521Ile
ENST00000684261.1:c.8041T>A	ENSP00000508097.1:p.Phe2681Ile
ENST00000684649.1:c.3789T>A
ENST00000262189.11:c.13144T>A MANE Select	ENSP00000262189.6:p.Phe4382Ile
ENST00000360104.8:c.8931T>A
ENST00000418061.2:c.3786T>A
ENST00000424877.6:c.3720T>A
ENST00000679393.1:n.7855T>A
ENST00000679560.1:c.8044T>A	ENSP00000505094.1:p.Phe2682Ile
ENST00000679882.1:c.12709T>A	ENSP00000506154.1:p.Phe4237Ile
ENST00000680029.1:c.3721T>A
ENST00000680877.1:c.8044T>A	ENSP00000505724.1:p.Phe2682Ile
ENST00000681923.1:n.2159T>A
ENST00000262189.10:c.13144T>A	ENSP00000262189.6:p.Phe4382Ile
ENST00000355193.6:c.13144T>A	ENSP00000347325.3:p.Phe4382Ile
ENST00000360104.7:c.5825T>A
ENST00000424877.5:c.2995T>A	ENSP00000410411.1:p.Phe999Ile
ENST00000473186.5:n.11026T>A
ENST00000558084.5:c.*10664T>A	ENSP00000453752.1:n.*10664T>A
NM_170606.2:c.13144T>A	NP_733751.2:p.Phe4382Ile
XM_005250025.3:c.13360T>A	XP_005250082.1:p.Phe4454Ile
XM_005250026.2:c.13357T>A	XP_005250083.1:p.Phe4453Ile
XM_005250027.3:c.13357T>A	XP_005250084.1:p.Phe4453Ile
XM_005250028.3:c.13360T>A	XP_005250085.1:p.Phe4454Ile
XM_005250031.3:c.13195T>A	XP_005250088.1:p.Phe4399Ile
XM_006716077.2:c.13357T>A	XP_006716140.1:p.Phe4453Ile
XM_006716078.2:c.13288T>A	XP_006716141.1:p.Phe4430Ile
XM_006716079.2:c.13192T>A	XP_006716142.1:p.Phe4398Ile
XM_011516450.1:c.13312T>A	XP_011514752.1:p.Phe4438Ile
XM_011516451.1:c.13240T>A	XP_011514753.1:p.Phe4414Ile
XM_011516452.1:c.13207T>A	XP_011514754.1:p.Phe4403Ile
XM_011516453.1:c.13123T>A	XP_011514755.1:p.Phe4375Ile
XM_011516454.1:c.12445T>A	XP_011514756.1:p.Phe4149Ile
XM_011516455.1:c.10906T>A	XP_011514757.1:p.Phe3636Ile
XM_011516456.1:c.13312T>A	XP_011514758.1:p.Phe4438Ile
XM_005250025.4:c.13360T>A	XP_005250082.1:p.Phe4454Ile
XM_005250026.3:c.13357T>A	XP_005250083.1:p.Phe4453Ile
XM_005250027.4:c.13357T>A	XP_005250084.1:p.Phe4453Ile
XM_005250028.4:c.13360T>A	XP_005250085.1:p.Phe4454Ile
XM_005250031.4:c.13195T>A	XP_005250088.1:p.Phe4399Ile
XM_006716077.3:c.13357T>A	XP_006716140.1:p.Phe4453Ile
XM_006716078.3:c.13288T>A	XP_006716141.1:p.Phe4430Ile
XM_006716079.3:c.13192T>A	XP_006716142.1:p.Phe4398Ile
XM_011516450.2:c.13312T>A	XP_011514752.1:p.Phe4438Ile
XM_011516451.2:c.13240T>A	XP_011514753.1:p.Phe4414Ile
XM_011516452.2:c.13207T>A	XP_011514754.1:p.Phe4403Ile
XM_011516453.2:c.13123T>A	XP_011514755.1:p.Phe4375Ile
XM_011516454.2:c.12445T>A	XP_011514756.1:p.Phe4149Ile
XM_011516456.2:c.13312T>A	XP_011514758.1:p.Phe4438Ile
XM_017012480.1:c.13360T>A	XP_016867969.1:p.Phe4454Ile
XM_017012481.1:c.13357T>A	XP_016867970.1:p.Phe4453Ile
XM_017012482.1:c.13357T>A	XP_016867971.1:p.Phe4453Ile
XM_017012483.1:c.13357T>A	XP_016867972.1:p.Phe4453Ile
XM_017012484.1:c.13327T>A	XP_016867973.1:p.Phe4443Ile
XM_017012485.1:c.13309T>A	XP_016867974.1:p.Phe4437Ile
XM_017012486.1:c.13285T>A	XP_016867975.1:p.Phe4429Ile
XM_017012487.1:c.13213T>A	XP_016867976.1:p.Phe4405Ile
XM_017012488.1:c.13177T>A	XP_016867977.1:p.Phe4393Ile
XM_017012489.1:c.10030T>A	XP_016867978.1:p.Phe3344Ile
XM_017012490.2:c.9634T>A	XP_016867979.1:p.Phe3212Ile
XM_024446852.1:c.13357T>A	XP_024302620.1:p.Phe4453Ile
XM_024446853.1:c.13285T>A	XP_024302621.1:p.Phe4429Ile
NM_170606.3:c.13144T>A MANE Select	NP_733751.2:p.Phe4382Ile