Canonical Allele Identifier: CA370093101

Gene: KMT2C

Linked Data

• dbSNP Id: rs2091372147
• MyVariant Identifiers: chr7:g.151845886C>T (hg19) ; chr7:g.152148801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148801C>T , CM000669.2:g.152148801C>T	GRCh38
NC_000007.13:g.151845886C>T , CM000669.1:g.151845886C>T	GRCh37
NC_000007.12:g.151476819C>T	NCBI36
NG_033948.1:g.292205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1314G>A
ENST00000682116.1:n.2258G>A
ENST00000682283.1:c.13297G>A	ENSP00000507485.1:p.Glu4433Lys
ENST00000682629.1:n.2426G>A
ENST00000683120.1:n.8318G>A
ENST00000683178.1:c.3699G>A
ENST00000683200.1:c.10636G>A	ENSP00000508052.1:p.Glu3546Lys
ENST00000683337.1:n.4756G>A
ENST00000683502.1:c.3771G>A
ENST00000683621.1:n.1892G>A
ENST00000683640.1:n.1842G>A
ENST00000684069.1:c.1543G>A	ENSP00000507650.1:p.Glu515Lys
ENST00000684261.1:c.8023G>A	ENSP00000508097.1:p.Glu2675Lys
ENST00000684649.1:c.3771G>A
ENST00000262189.11:c.13126G>A MANE Select	ENSP00000262189.6:p.Glu4376Lys
ENST00000360104.8:c.8913G>A
ENST00000418061.2:c.3768G>A
ENST00000424877.6:c.3702G>A
ENST00000679393.1:n.7837G>A
ENST00000679560.1:c.8026G>A	ENSP00000505094.1:p.Glu2676Lys
ENST00000679882.1:c.12691G>A	ENSP00000506154.1:p.Glu4231Lys
ENST00000680029.1:c.3703G>A
ENST00000680877.1:c.8026G>A	ENSP00000505724.1:p.Glu2676Lys
ENST00000681923.1:n.2141G>A
ENST00000262189.10:c.13126G>A	ENSP00000262189.6:p.Glu4376Lys
ENST00000355193.6:c.13126G>A	ENSP00000347325.3:p.Glu4376Lys
ENST00000360104.7:c.5807G>A
ENST00000424877.5:c.2977G>A	ENSP00000410411.1:p.Glu993Lys
ENST00000473186.5:n.11008G>A
ENST00000558084.5:c.*10646G>A	ENSP00000453752.1:n.*10646G>A
NM_170606.2:c.13126G>A	NP_733751.2:p.Glu4376Lys
XM_005250025.3:c.13342G>A	XP_005250082.1:p.Glu4448Lys
XM_005250026.2:c.13339G>A	XP_005250083.1:p.Glu4447Lys
XM_005250027.3:c.13339G>A	XP_005250084.1:p.Glu4447Lys
XM_005250028.3:c.13342G>A	XP_005250085.1:p.Glu4448Lys
XM_005250031.3:c.13177G>A	XP_005250088.1:p.Glu4393Lys
XM_006716077.2:c.13339G>A	XP_006716140.1:p.Glu4447Lys
XM_006716078.2:c.13270G>A	XP_006716141.1:p.Glu4424Lys
XM_006716079.2:c.13174G>A	XP_006716142.1:p.Glu4392Lys
XM_011516450.1:c.13294G>A	XP_011514752.1:p.Glu4432Lys
XM_011516451.1:c.13222G>A	XP_011514753.1:p.Glu4408Lys
XM_011516452.1:c.13189G>A	XP_011514754.1:p.Glu4397Lys
XM_011516453.1:c.13105G>A	XP_011514755.1:p.Glu4369Lys
XM_011516454.1:c.12427G>A	XP_011514756.1:p.Glu4143Lys
XM_011516455.1:c.10888G>A	XP_011514757.1:p.Glu3630Lys
XM_011516456.1:c.13294G>A	XP_011514758.1:p.Glu4432Lys
XM_005250025.4:c.13342G>A	XP_005250082.1:p.Glu4448Lys
XM_005250026.3:c.13339G>A	XP_005250083.1:p.Glu4447Lys
XM_005250027.4:c.13339G>A	XP_005250084.1:p.Glu4447Lys
XM_005250028.4:c.13342G>A	XP_005250085.1:p.Glu4448Lys
XM_005250031.4:c.13177G>A	XP_005250088.1:p.Glu4393Lys
XM_006716077.3:c.13339G>A	XP_006716140.1:p.Glu4447Lys
XM_006716078.3:c.13270G>A	XP_006716141.1:p.Glu4424Lys
XM_006716079.3:c.13174G>A	XP_006716142.1:p.Glu4392Lys
XM_011516450.2:c.13294G>A	XP_011514752.1:p.Glu4432Lys
XM_011516451.2:c.13222G>A	XP_011514753.1:p.Glu4408Lys
XM_011516452.2:c.13189G>A	XP_011514754.1:p.Glu4397Lys
XM_011516453.2:c.13105G>A	XP_011514755.1:p.Glu4369Lys
XM_011516454.2:c.12427G>A	XP_011514756.1:p.Glu4143Lys
XM_011516456.2:c.13294G>A	XP_011514758.1:p.Glu4432Lys
XM_017012480.1:c.13342G>A	XP_016867969.1:p.Glu4448Lys
XM_017012481.1:c.13339G>A	XP_016867970.1:p.Glu4447Lys
XM_017012482.1:c.13339G>A	XP_016867971.1:p.Glu4447Lys
XM_017012483.1:c.13339G>A	XP_016867972.1:p.Glu4447Lys
XM_017012484.1:c.13309G>A	XP_016867973.1:p.Glu4437Lys
XM_017012485.1:c.13291G>A	XP_016867974.1:p.Glu4431Lys
XM_017012486.1:c.13267G>A	XP_016867975.1:p.Glu4423Lys
XM_017012487.1:c.13195G>A	XP_016867976.1:p.Glu4399Lys
XM_017012488.1:c.13159G>A	XP_016867977.1:p.Glu4387Lys
XM_017012489.1:c.10012G>A	XP_016867978.1:p.Glu3338Lys
XM_017012490.2:c.9616G>A	XP_016867979.1:p.Glu3206Lys
XM_024446852.1:c.13339G>A	XP_024302620.1:p.Glu4447Lys
XM_024446853.1:c.13267G>A	XP_024302621.1:p.Glu4423Lys
NM_170606.3:c.13126G>A MANE Select	NP_733751.2:p.Glu4376Lys