Canonical Allele Identifier: CA370091973

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845791T>A (hg19) ; chr7:g.152148706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148706T>A , CM000669.2:g.152148706T>A	GRCh38
NC_000007.13:g.151845791T>A , CM000669.1:g.151845791T>A	GRCh37
NC_000007.12:g.151476724T>A	NCBI36
NG_033948.1:g.292300A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1409A>T
ENST00000682116.1:n.2353A>T
ENST00000682283.1:c.13392A>T	ENSP00000507485.1:p.Glu4464Asp
ENST00000682629.1:n.2521A>T
ENST00000683120.1:n.8413A>T
ENST00000683178.1:c.3794A>T
ENST00000683200.1:c.10731A>T	ENSP00000508052.1:p.Glu3577Asp
ENST00000683337.1:n.4851A>T
ENST00000683502.1:c.3866A>T
ENST00000683621.1:n.1987A>T
ENST00000683640.1:n.1937A>T
ENST00000684069.1:c.1638A>T	ENSP00000507650.1:p.Glu546Asp
ENST00000684261.1:c.8118A>T	ENSP00000508097.1:p.Glu2706Asp
ENST00000684649.1:c.3866A>T
ENST00000262189.11:c.13221A>T MANE Select	ENSP00000262189.6:p.Glu4407Asp
ENST00000360104.8:c.9008A>T
ENST00000418061.2:c.3863A>T
ENST00000424877.6:c.3797A>T
ENST00000679393.1:n.7932A>T
ENST00000679560.1:c.8121A>T	ENSP00000505094.1:p.Glu2707Asp
ENST00000679882.1:c.12786A>T	ENSP00000506154.1:p.Glu4262Asp
ENST00000680029.1:c.3798A>T
ENST00000680877.1:c.8121A>T	ENSP00000505724.1:p.Glu2707Asp
ENST00000681923.1:n.2236A>T
ENST00000262189.10:c.13221A>T	ENSP00000262189.6:p.Glu4407Asp
ENST00000355193.6:c.13221A>T	ENSP00000347325.3:p.Glu4407Asp
ENST00000360104.7:c.5902A>T
ENST00000424877.5:c.3072A>T	ENSP00000410411.1:p.Glu1024Asp
ENST00000473186.5:n.11103A>T
ENST00000558084.5:c.*10741A>T	ENSP00000453752.1:n.*10741A>T
NM_170606.2:c.13221A>T	NP_733751.2:p.Glu4407Asp
XM_005250025.3:c.13437A>T	XP_005250082.1:p.Glu4479Asp
XM_005250026.2:c.13434A>T	XP_005250083.1:p.Glu4478Asp
XM_005250027.3:c.13434A>T	XP_005250084.1:p.Glu4478Asp
XM_005250028.3:c.13437A>T	XP_005250085.1:p.Glu4479Asp
XM_005250031.3:c.13272A>T	XP_005250088.1:p.Glu4424Asp
XM_006716077.2:c.13434A>T	XP_006716140.1:p.Glu4478Asp
XM_006716078.2:c.13365A>T	XP_006716141.1:p.Glu4455Asp
XM_006716079.2:c.13269A>T	XP_006716142.1:p.Glu4423Asp
XM_011516450.1:c.13389A>T	XP_011514752.1:p.Glu4463Asp
XM_011516451.1:c.13317A>T	XP_011514753.1:p.Glu4439Asp
XM_011516452.1:c.13284A>T	XP_011514754.1:p.Glu4428Asp
XM_011516453.1:c.13200A>T	XP_011514755.1:p.Glu4400Asp
XM_011516454.1:c.12522A>T	XP_011514756.1:p.Glu4174Asp
XM_011516455.1:c.10983A>T	XP_011514757.1:p.Glu3661Asp
XM_011516456.1:c.13389A>T	XP_011514758.1:p.Glu4463Asp
XM_005250025.4:c.13437A>T	XP_005250082.1:p.Glu4479Asp
XM_005250026.3:c.13434A>T	XP_005250083.1:p.Glu4478Asp
XM_005250027.4:c.13434A>T	XP_005250084.1:p.Glu4478Asp
XM_005250028.4:c.13437A>T	XP_005250085.1:p.Glu4479Asp
XM_005250031.4:c.13272A>T	XP_005250088.1:p.Glu4424Asp
XM_006716077.3:c.13434A>T	XP_006716140.1:p.Glu4478Asp
XM_006716078.3:c.13365A>T	XP_006716141.1:p.Glu4455Asp
XM_006716079.3:c.13269A>T	XP_006716142.1:p.Glu4423Asp
XM_011516450.2:c.13389A>T	XP_011514752.1:p.Glu4463Asp
XM_011516451.2:c.13317A>T	XP_011514753.1:p.Glu4439Asp
XM_011516452.2:c.13284A>T	XP_011514754.1:p.Glu4428Asp
XM_011516453.2:c.13200A>T	XP_011514755.1:p.Glu4400Asp
XM_011516454.2:c.12522A>T	XP_011514756.1:p.Glu4174Asp
XM_011516456.2:c.13389A>T	XP_011514758.1:p.Glu4463Asp
XM_017012480.1:c.13437A>T	XP_016867969.1:p.Glu4479Asp
XM_017012481.1:c.13434A>T	XP_016867970.1:p.Glu4478Asp
XM_017012482.1:c.13434A>T	XP_016867971.1:p.Glu4478Asp
XM_017012483.1:c.13434A>T	XP_016867972.1:p.Glu4478Asp
XM_017012484.1:c.13404A>T	XP_016867973.1:p.Glu4468Asp
XM_017012485.1:c.13386A>T	XP_016867974.1:p.Glu4462Asp
XM_017012486.1:c.13362A>T	XP_016867975.1:p.Glu4454Asp
XM_017012487.1:c.13290A>T	XP_016867976.1:p.Glu4430Asp
XM_017012488.1:c.13254A>T	XP_016867977.1:p.Glu4418Asp
XM_017012489.1:c.10107A>T	XP_016867978.1:p.Glu3369Asp
XM_017012490.2:c.9711A>T	XP_016867979.1:p.Glu3237Asp
XM_024446852.1:c.13434A>T	XP_024302620.1:p.Glu4478Asp
XM_024446853.1:c.13362A>T	XP_024302621.1:p.Glu4454Asp
NM_170606.3:c.13221A>T MANE Select	NP_733751.2:p.Glu4407Asp