Canonical Allele Identifier: CA370093038

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845870T>A (hg19) ; chr7:g.152148785T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148785T>A , CM000669.2:g.152148785T>A	GRCh38
NC_000007.13:g.151845870T>A , CM000669.1:g.151845870T>A	GRCh37
NC_000007.12:g.151476803T>A	NCBI36
NG_033948.1:g.292221A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1330A>T
ENST00000682116.1:n.2274A>T
ENST00000682283.1:c.13313A>T	ENSP00000507485.1:p.Glu4438Val
ENST00000682629.1:n.2442A>T
ENST00000683120.1:n.8334A>T
ENST00000683178.1:c.3715A>T
ENST00000683200.1:c.10652A>T	ENSP00000508052.1:p.Glu3551Val
ENST00000683337.1:n.4772A>T
ENST00000683502.1:c.3787A>T
ENST00000683621.1:n.1908A>T
ENST00000683640.1:n.1858A>T
ENST00000684069.1:c.1559A>T	ENSP00000507650.1:p.Glu520Val
ENST00000684261.1:c.8039A>T	ENSP00000508097.1:p.Glu2680Val
ENST00000684649.1:c.3787A>T
ENST00000262189.11:c.13142A>T MANE Select	ENSP00000262189.6:p.Glu4381Val
ENST00000360104.8:c.8929A>T
ENST00000418061.2:c.3784A>T
ENST00000424877.6:c.3718A>T
ENST00000679393.1:n.7853A>T
ENST00000679560.1:c.8042A>T	ENSP00000505094.1:p.Glu2681Val
ENST00000679882.1:c.12707A>T	ENSP00000506154.1:p.Glu4236Val
ENST00000680029.1:c.3719A>T
ENST00000680877.1:c.8042A>T	ENSP00000505724.1:p.Glu2681Val
ENST00000681923.1:n.2157A>T
ENST00000262189.10:c.13142A>T	ENSP00000262189.6:p.Glu4381Val
ENST00000355193.6:c.13142A>T	ENSP00000347325.3:p.Glu4381Val
ENST00000360104.7:c.5823A>T
ENST00000424877.5:c.2993A>T	ENSP00000410411.1:p.Glu998Val
ENST00000473186.5:n.11024A>T
ENST00000558084.5:c.*10662A>T	ENSP00000453752.1:n.*10662A>T
NM_170606.2:c.13142A>T	NP_733751.2:p.Glu4381Val
XM_005250025.3:c.13358A>T	XP_005250082.1:p.Glu4453Val
XM_005250026.2:c.13355A>T	XP_005250083.1:p.Glu4452Val
XM_005250027.3:c.13355A>T	XP_005250084.1:p.Glu4452Val
XM_005250028.3:c.13358A>T	XP_005250085.1:p.Glu4453Val
XM_005250031.3:c.13193A>T	XP_005250088.1:p.Glu4398Val
XM_006716077.2:c.13355A>T	XP_006716140.1:p.Glu4452Val
XM_006716078.2:c.13286A>T	XP_006716141.1:p.Glu4429Val
XM_006716079.2:c.13190A>T	XP_006716142.1:p.Glu4397Val
XM_011516450.1:c.13310A>T	XP_011514752.1:p.Glu4437Val
XM_011516451.1:c.13238A>T	XP_011514753.1:p.Glu4413Val
XM_011516452.1:c.13205A>T	XP_011514754.1:p.Glu4402Val
XM_011516453.1:c.13121A>T	XP_011514755.1:p.Glu4374Val
XM_011516454.1:c.12443A>T	XP_011514756.1:p.Glu4148Val
XM_011516455.1:c.10904A>T	XP_011514757.1:p.Glu3635Val
XM_011516456.1:c.13310A>T	XP_011514758.1:p.Glu4437Val
XM_005250025.4:c.13358A>T	XP_005250082.1:p.Glu4453Val
XM_005250026.3:c.13355A>T	XP_005250083.1:p.Glu4452Val
XM_005250027.4:c.13355A>T	XP_005250084.1:p.Glu4452Val
XM_005250028.4:c.13358A>T	XP_005250085.1:p.Glu4453Val
XM_005250031.4:c.13193A>T	XP_005250088.1:p.Glu4398Val
XM_006716077.3:c.13355A>T	XP_006716140.1:p.Glu4452Val
XM_006716078.3:c.13286A>T	XP_006716141.1:p.Glu4429Val
XM_006716079.3:c.13190A>T	XP_006716142.1:p.Glu4397Val
XM_011516450.2:c.13310A>T	XP_011514752.1:p.Glu4437Val
XM_011516451.2:c.13238A>T	XP_011514753.1:p.Glu4413Val
XM_011516452.2:c.13205A>T	XP_011514754.1:p.Glu4402Val
XM_011516453.2:c.13121A>T	XP_011514755.1:p.Glu4374Val
XM_011516454.2:c.12443A>T	XP_011514756.1:p.Glu4148Val
XM_011516456.2:c.13310A>T	XP_011514758.1:p.Glu4437Val
XM_017012480.1:c.13358A>T	XP_016867969.1:p.Glu4453Val
XM_017012481.1:c.13355A>T	XP_016867970.1:p.Glu4452Val
XM_017012482.1:c.13355A>T	XP_016867971.1:p.Glu4452Val
XM_017012483.1:c.13355A>T	XP_016867972.1:p.Glu4452Val
XM_017012484.1:c.13325A>T	XP_016867973.1:p.Glu4442Val
XM_017012485.1:c.13307A>T	XP_016867974.1:p.Glu4436Val
XM_017012486.1:c.13283A>T	XP_016867975.1:p.Glu4428Val
XM_017012487.1:c.13211A>T	XP_016867976.1:p.Glu4404Val
XM_017012488.1:c.13175A>T	XP_016867977.1:p.Glu4392Val
XM_017012489.1:c.10028A>T	XP_016867978.1:p.Glu3343Val
XM_017012490.2:c.9632A>T	XP_016867979.1:p.Glu3211Val
XM_024446852.1:c.13355A>T	XP_024302620.1:p.Glu4452Val
XM_024446853.1:c.13283A>T	XP_024302621.1:p.Glu4428Val
NM_170606.3:c.13142A>T MANE Select	NP_733751.2:p.Glu4381Val