Canonical Allele Identifier: CA370093046

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148786-C-T
• MyVariant Identifiers: chr7:g.151845871C>T (hg19) ; chr7:g.152148786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148786C>T , CM000669.2:g.152148786C>T	GRCh38
NC_000007.13:g.151845871C>T , CM000669.1:g.151845871C>T	GRCh37
NC_000007.12:g.151476804C>T	NCBI36
NG_033948.1:g.292220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1329G>A
ENST00000682116.1:n.2273G>A
ENST00000682283.1:c.13312G>A	ENSP00000507485.1:p.Glu4438Lys
ENST00000682629.1:n.2441G>A
ENST00000683120.1:n.8333G>A
ENST00000683178.1:c.3714G>A
ENST00000683200.1:c.10651G>A	ENSP00000508052.1:p.Glu3551Lys
ENST00000683337.1:n.4771G>A
ENST00000683502.1:c.3786G>A
ENST00000683621.1:n.1907G>A
ENST00000683640.1:n.1857G>A
ENST00000684069.1:c.1558G>A	ENSP00000507650.1:p.Glu520Lys
ENST00000684261.1:c.8038G>A	ENSP00000508097.1:p.Glu2680Lys
ENST00000684649.1:c.3786G>A
ENST00000262189.11:c.13141G>A MANE Select	ENSP00000262189.6:p.Glu4381Lys
ENST00000360104.8:c.8928G>A
ENST00000418061.2:c.3783G>A
ENST00000424877.6:c.3717G>A
ENST00000679393.1:n.7852G>A
ENST00000679560.1:c.8041G>A	ENSP00000505094.1:p.Glu2681Lys
ENST00000679882.1:c.12706G>A	ENSP00000506154.1:p.Glu4236Lys
ENST00000680029.1:c.3718G>A
ENST00000680877.1:c.8041G>A	ENSP00000505724.1:p.Glu2681Lys
ENST00000681923.1:n.2156G>A
ENST00000262189.10:c.13141G>A	ENSP00000262189.6:p.Glu4381Lys
ENST00000355193.6:c.13141G>A	ENSP00000347325.3:p.Glu4381Lys
ENST00000360104.7:c.5822G>A
ENST00000424877.5:c.2992G>A	ENSP00000410411.1:p.Glu998Lys
ENST00000473186.5:n.11023G>A
ENST00000558084.5:c.*10661G>A	ENSP00000453752.1:n.*10661G>A
NM_170606.2:c.13141G>A	NP_733751.2:p.Glu4381Lys
XM_005250025.3:c.13357G>A	XP_005250082.1:p.Glu4453Lys
XM_005250026.2:c.13354G>A	XP_005250083.1:p.Glu4452Lys
XM_005250027.3:c.13354G>A	XP_005250084.1:p.Glu4452Lys
XM_005250028.3:c.13357G>A	XP_005250085.1:p.Glu4453Lys
XM_005250031.3:c.13192G>A	XP_005250088.1:p.Glu4398Lys
XM_006716077.2:c.13354G>A	XP_006716140.1:p.Glu4452Lys
XM_006716078.2:c.13285G>A	XP_006716141.1:p.Glu4429Lys
XM_006716079.2:c.13189G>A	XP_006716142.1:p.Glu4397Lys
XM_011516450.1:c.13309G>A	XP_011514752.1:p.Glu4437Lys
XM_011516451.1:c.13237G>A	XP_011514753.1:p.Glu4413Lys
XM_011516452.1:c.13204G>A	XP_011514754.1:p.Glu4402Lys
XM_011516453.1:c.13120G>A	XP_011514755.1:p.Glu4374Lys
XM_011516454.1:c.12442G>A	XP_011514756.1:p.Glu4148Lys
XM_011516455.1:c.10903G>A	XP_011514757.1:p.Glu3635Lys
XM_011516456.1:c.13309G>A	XP_011514758.1:p.Glu4437Lys
XM_005250025.4:c.13357G>A	XP_005250082.1:p.Glu4453Lys
XM_005250026.3:c.13354G>A	XP_005250083.1:p.Glu4452Lys
XM_005250027.4:c.13354G>A	XP_005250084.1:p.Glu4452Lys
XM_005250028.4:c.13357G>A	XP_005250085.1:p.Glu4453Lys
XM_005250031.4:c.13192G>A	XP_005250088.1:p.Glu4398Lys
XM_006716077.3:c.13354G>A	XP_006716140.1:p.Glu4452Lys
XM_006716078.3:c.13285G>A	XP_006716141.1:p.Glu4429Lys
XM_006716079.3:c.13189G>A	XP_006716142.1:p.Glu4397Lys
XM_011516450.2:c.13309G>A	XP_011514752.1:p.Glu4437Lys
XM_011516451.2:c.13237G>A	XP_011514753.1:p.Glu4413Lys
XM_011516452.2:c.13204G>A	XP_011514754.1:p.Glu4402Lys
XM_011516453.2:c.13120G>A	XP_011514755.1:p.Glu4374Lys
XM_011516454.2:c.12442G>A	XP_011514756.1:p.Glu4148Lys
XM_011516456.2:c.13309G>A	XP_011514758.1:p.Glu4437Lys
XM_017012480.1:c.13357G>A	XP_016867969.1:p.Glu4453Lys
XM_017012481.1:c.13354G>A	XP_016867970.1:p.Glu4452Lys
XM_017012482.1:c.13354G>A	XP_016867971.1:p.Glu4452Lys
XM_017012483.1:c.13354G>A	XP_016867972.1:p.Glu4452Lys
XM_017012484.1:c.13324G>A	XP_016867973.1:p.Glu4442Lys
XM_017012485.1:c.13306G>A	XP_016867974.1:p.Glu4436Lys
XM_017012486.1:c.13282G>A	XP_016867975.1:p.Glu4428Lys
XM_017012487.1:c.13210G>A	XP_016867976.1:p.Glu4404Lys
XM_017012488.1:c.13174G>A	XP_016867977.1:p.Glu4392Lys
XM_017012489.1:c.10027G>A	XP_016867978.1:p.Glu3343Lys
XM_017012490.2:c.9631G>A	XP_016867979.1:p.Glu3211Lys
XM_024446852.1:c.13354G>A	XP_024302620.1:p.Glu4452Lys
XM_024446853.1:c.13282G>A	XP_024302621.1:p.Glu4428Lys
NM_170606.3:c.13141G>A MANE Select	NP_733751.2:p.Glu4381Lys