Canonical Allele Identifier: CA4579890

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152179904A>G , CM000669.2:g.152179904A>G	GRCh38
NC_000007.13:g.151876989A>G , CM000669.1:g.151876989A>G	GRCh37
NC_000007.12:g.151507922A>G	NCBI36
NG_033948.1:g.261102T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.7372T>C MANE Select	NP_733751.2:p.Phe2458Leu
ENST00000262189.11:c.7372T>C MANE Select	ENSP00000262189.6:p.Phe2458Leu
NM_170606.2:c.7372T>C	NP_733751.2:p.Phe2458Leu
ENST00000262189.10:c.7372T>C	ENSP00000262189.6:p.Phe2458Leu
ENST00000355193.6:c.7372T>C	ENSP00000347325.3:p.Phe2458Leu
ENST00000360104.8:c.2994T>C
ENST00000473186.5:n.5083T>C
ENST00000558084.5:c.*4892T>C	ENSP00000453752.1:n.*4892T>C
ENST00000558665.1:c.286T>C	ENSP00000454058.1:p.Phe96Leu
ENST00000558665.2:c.661T>C	ENSP00000454058.2:p.Phe221Leu
ENST00000679393.1:n.863T>C
ENST00000679560.1:c.2107T>C	ENSP00000505094.1:p.Phe703Leu
ENST00000679645.1:c.*3465T>C	ENSP00000505745.1:n.*3465T>C
ENST00000679882.1:c.7147T>C	ENSP00000506154.1:p.Phe2383Leu
ENST00000680877.1:c.2107T>C	ENSP00000505724.1:p.Phe703Leu
ENST00000680969.1:c.4768T>C	ENSP00000505951.1:p.Phe1590Leu
ENST00000681033.1:c.6070T>C	ENSP00000505058.1:p.Phe2024Leu
ENST00000682176.1:c.4091T>C
ENST00000682283.1:c.7372T>C	ENSP00000507485.1:p.Phe2458Leu
ENST00000683159.1:c.2682T>C
ENST00000683200.1:c.4720T>C	ENSP00000508052.1:p.Phe1574Leu
ENST00000683397.1:c.2107T>C	ENSP00000507053.1:p.Phe703Leu
ENST00000683625.1:c.2107T>C	ENSP00000507769.1:p.Phe703Leu
ENST00000683670.1:c.2107T>C	ENSP00000507634.1:p.Phe703Leu
ENST00000684261.1:c.2107T>C	ENSP00000508097.1:p.Phe703Leu
ENST00000684307.1:c.2107T>C	ENSP00000507202.1:p.Phe703Leu
ENST00000684398.1:c.2107T>C	ENSP00000507254.1:p.Phe703Leu
XM_005250025.3:c.7423T>C	XP_005250082.1:p.Phe2475Leu
XM_005250025.4:c.7423T>C	XP_005250082.1:p.Phe2475Leu
XM_005250026.2:c.7420T>C	XP_005250083.1:p.Phe2474Leu
XM_005250026.3:c.7420T>C	XP_005250083.1:p.Phe2474Leu
XM_005250027.3:c.7423T>C	XP_005250084.1:p.Phe2475Leu
XM_005250027.4:c.7423T>C	XP_005250084.1:p.Phe2475Leu
XM_005250028.3:c.7423T>C	XP_005250085.1:p.Phe2475Leu
XM_005250028.4:c.7423T>C	XP_005250085.1:p.Phe2475Leu
XM_005250031.3:c.7423T>C	XP_005250088.1:p.Phe2475Leu
XM_005250031.4:c.7423T>C	XP_005250088.1:p.Phe2475Leu
XM_006716077.2:c.7423T>C	XP_006716140.1:p.Phe2475Leu
XM_006716077.3:c.7423T>C	XP_006716140.1:p.Phe2475Leu
XM_006716078.2:c.7423T>C	XP_006716141.1:p.Phe2475Leu
XM_006716078.3:c.7423T>C	XP_006716141.1:p.Phe2475Leu
XM_006716079.2:c.7423T>C	XP_006716142.1:p.Phe2475Leu
XM_006716079.3:c.7423T>C	XP_006716142.1:p.Phe2475Leu
XM_011516450.1:c.7375T>C	XP_011514752.1:p.Phe2459Leu
XM_011516450.2:c.7375T>C	XP_011514752.1:p.Phe2459Leu
XM_011516451.1:c.7303T>C	XP_011514753.1:p.Phe2435Leu
XM_011516451.2:c.7303T>C	XP_011514753.1:p.Phe2435Leu
XM_011516452.1:c.7270T>C	XP_011514754.1:p.Phe2424Leu
XM_011516452.2:c.7270T>C	XP_011514754.1:p.Phe2424Leu
XM_011516453.1:c.7423T>C	XP_011514755.1:p.Phe2475Leu
XM_011516453.2:c.7423T>C	XP_011514755.1:p.Phe2475Leu
XM_011516454.1:c.6508T>C	XP_011514756.1:p.Phe2170Leu
XM_011516454.2:c.6508T>C	XP_011514756.1:p.Phe2170Leu
XM_011516455.1:c.4969T>C	XP_011514757.1:p.Phe1657Leu
XM_011516456.1:c.7375T>C	XP_011514758.1:p.Phe2459Leu
XM_011516456.2:c.7375T>C	XP_011514758.1:p.Phe2459Leu
XM_017012480.1:c.7423T>C	XP_016867969.1:p.Phe2475Leu
XM_017012481.1:c.7420T>C	XP_016867970.1:p.Phe2474Leu
XM_017012482.1:c.7423T>C	XP_016867971.1:p.Phe2475Leu
XM_017012483.1:c.7423T>C	XP_016867972.1:p.Phe2475Leu
XM_017012484.1:c.7390T>C	XP_016867973.1:p.Phe2464Leu
XM_017012485.1:c.7372T>C	XP_016867974.1:p.Phe2458Leu
XM_017012486.1:c.7423T>C	XP_016867975.1:p.Phe2475Leu
XM_017012487.1:c.7276T>C	XP_016867976.1:p.Phe2426Leu
XM_017012488.1:c.7240T>C	XP_016867977.1:p.Phe2414Leu
XM_017012489.1:c.4093T>C	XP_016867978.1:p.Phe1365Leu
XM_017012490.2:c.3697T>C	XP_016867979.1:p.Phe1233Leu
XM_024446852.1:c.7420T>C	XP_024302620.1:p.Phe2474Leu
XM_024446853.1:c.7423T>C	XP_024302621.1:p.Phe2475Leu
XR_428183.2:n.7631T>C
XR_428183.3:n.7655T>C