Canonical Allele Identifier: CA4578856

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152154092G>A , CM000669.2:g.152154092G>A	GRCh38
NC_000007.13:g.151851177G>A , CM000669.1:g.151851177G>A	GRCh37
NC_000007.12:g.151482110G>A	NCBI36
NG_033948.1:g.286914C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.12194C>T MANE Select	NP_733751.2:p.Ala4065Val
ENST00000262189.11:c.12194C>T MANE Select	ENSP00000262189.6:p.Ala4065Val
NM_170606.2:c.12194C>T	NP_733751.2:p.Ala4065Val
ENST00000262189.10:c.12194C>T	ENSP00000262189.6:p.Ala4065Val
ENST00000355193.6:c.12194C>T	ENSP00000347325.3:p.Ala4065Val
ENST00000360104.7:c.4875C>T
ENST00000360104.8:c.7981C>T
ENST00000418061.1:c.572C>T	ENSP00000408001.1:p.Ala191Val
ENST00000418061.2:c.2836C>T
ENST00000424877.5:c.2045C>T	ENSP00000410411.1:p.Ala682Val
ENST00000424877.6:c.2770C>T
ENST00000473186.5:n.10076C>T
ENST00000485241.1:n.331C>T
ENST00000485241.2:n.331C>T
ENST00000558084.5:c.*9714C>T	ENSP00000453752.1:n.*9714C>T
ENST00000679393.1:n.5850C>T
ENST00000679560.1:c.7094C>T	ENSP00000505094.1:p.Ala2365Val
ENST00000679882.1:c.11759C>T	ENSP00000506154.1:p.Ala3920Val
ENST00000680029.1:c.2771C>T
ENST00000680877.1:c.7094C>T	ENSP00000505724.1:p.Ala2365Val
ENST00000681923.1:n.1209C>T
ENST00000682040.1:c.382C>T
ENST00000682283.1:c.12365C>T	ENSP00000507485.1:p.Ala4122Val
ENST00000683120.1:n.7386C>T
ENST00000683178.1:c.2767C>T
ENST00000683200.1:c.9704C>T	ENSP00000508052.1:p.Ala3235Val
ENST00000683337.1:n.2769C>T
ENST00000683502.1:c.2839C>T
ENST00000683886.1:n.1952C>T
ENST00000684069.1:c.611C>T	ENSP00000507650.1:p.Ala204Val
ENST00000684261.1:c.7091C>T	ENSP00000508097.1:p.Ala2364Val
ENST00000684330.1:n.2097C>T
ENST00000684649.1:c.2839C>T
XM_005250025.3:c.12410C>T	XP_005250082.1:p.Ala4137Val
XM_005250025.4:c.12410C>T	XP_005250082.1:p.Ala4137Val
XM_005250026.2:c.12407C>T	XP_005250083.1:p.Ala4136Val
XM_005250026.3:c.12407C>T	XP_005250083.1:p.Ala4136Val
XM_005250027.3:c.12407C>T	XP_005250084.1:p.Ala4136Val
XM_005250027.4:c.12407C>T	XP_005250084.1:p.Ala4136Val
XM_005250028.3:c.12410C>T	XP_005250085.1:p.Ala4137Val
XM_005250028.4:c.12410C>T	XP_005250085.1:p.Ala4137Val
XM_005250031.3:c.12245C>T	XP_005250088.1:p.Ala4082Val
XM_005250031.4:c.12245C>T	XP_005250088.1:p.Ala4082Val
XM_006716077.2:c.12407C>T	XP_006716140.1:p.Ala4136Val
XM_006716077.3:c.12407C>T	XP_006716140.1:p.Ala4136Val
XM_006716078.2:c.12338C>T	XP_006716141.1:p.Ala4113Val
XM_006716078.3:c.12338C>T	XP_006716141.1:p.Ala4113Val
XM_006716079.2:c.12242C>T	XP_006716142.1:p.Ala4081Val
XM_006716079.3:c.12242C>T	XP_006716142.1:p.Ala4081Val
XM_011516450.1:c.12362C>T	XP_011514752.1:p.Ala4121Val
XM_011516450.2:c.12362C>T	XP_011514752.1:p.Ala4121Val
XM_011516451.1:c.12290C>T	XP_011514753.1:p.Ala4097Val
XM_011516451.2:c.12290C>T	XP_011514753.1:p.Ala4097Val
XM_011516452.1:c.12257C>T	XP_011514754.1:p.Ala4086Val
XM_011516452.2:c.12257C>T	XP_011514754.1:p.Ala4086Val
XM_011516453.1:c.12173C>T	XP_011514755.1:p.Ala4058Val
XM_011516453.2:c.12173C>T	XP_011514755.1:p.Ala4058Val
XM_011516454.1:c.11495C>T	XP_011514756.1:p.Ala3832Val
XM_011516454.2:c.11495C>T	XP_011514756.1:p.Ala3832Val
XM_011516455.1:c.9956C>T	XP_011514757.1:p.Ala3319Val
XM_011516456.1:c.12362C>T	XP_011514758.1:p.Ala4121Val
XM_011516456.2:c.12362C>T	XP_011514758.1:p.Ala4121Val
XM_017012480.1:c.12410C>T	XP_016867969.1:p.Ala4137Val
XM_017012481.1:c.12407C>T	XP_016867970.1:p.Ala4136Val
XM_017012482.1:c.12407C>T	XP_016867971.1:p.Ala4136Val
XM_017012483.1:c.12407C>T	XP_016867972.1:p.Ala4136Val
XM_017012484.1:c.12377C>T	XP_016867973.1:p.Ala4126Val
XM_017012485.1:c.12359C>T	XP_016867974.1:p.Ala4120Val
XM_017012486.1:c.12335C>T	XP_016867975.1:p.Ala4112Val
XM_017012487.1:c.12263C>T	XP_016867976.1:p.Ala4088Val
XM_017012488.1:c.12227C>T	XP_016867977.1:p.Ala4076Val
XM_017012489.1:c.9080C>T	XP_016867978.1:p.Ala3027Val
XM_017012490.2:c.8684C>T	XP_016867979.1:p.Ala2895Val
XM_024446852.1:c.12407C>T	XP_024302620.1:p.Ala4136Val
XM_024446853.1:c.12335C>T	XP_024302621.1:p.Ala4112Val