Canonical Allele Identifier: CA370093348

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845957C>T (hg19) ; chr7:g.152148872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148872C>T , CM000669.2:g.152148872C>T	GRCh38
NC_000007.13:g.151845957C>T , CM000669.1:g.151845957C>T	GRCh37
NC_000007.12:g.151476890C>T	NCBI36
NG_033948.1:g.292134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1243G>A
ENST00000682116.1:n.2187G>A
ENST00000682283.1:c.13226G>A	ENSP00000507485.1:p.Trp4409Ter
ENST00000682629.1:n.2355G>A
ENST00000683120.1:n.8247G>A
ENST00000683178.1:c.3628G>A
ENST00000683200.1:c.10565G>A	ENSP00000508052.1:p.Trp3522Ter
ENST00000683337.1:n.4685G>A
ENST00000683502.1:c.3700G>A
ENST00000683621.1:n.1821G>A
ENST00000683640.1:n.1771G>A
ENST00000684069.1:c.1472G>A	ENSP00000507650.1:p.Trp491Ter
ENST00000684261.1:c.7952G>A	ENSP00000508097.1:p.Trp2651Ter
ENST00000684649.1:c.3700G>A
ENST00000262189.11:c.13055G>A MANE Select	ENSP00000262189.6:p.Trp4352Ter
ENST00000360104.8:c.8842G>A
ENST00000418061.2:c.3697G>A
ENST00000424877.6:c.3631G>A
ENST00000679393.1:n.7766G>A
ENST00000679560.1:c.7955G>A	ENSP00000505094.1:p.Trp2652Ter
ENST00000679882.1:c.12620G>A	ENSP00000506154.1:p.Trp4207Ter
ENST00000680029.1:c.3632G>A
ENST00000680877.1:c.7955G>A	ENSP00000505724.1:p.Trp2652Ter
ENST00000681923.1:n.2070G>A
ENST00000262189.10:c.13055G>A	ENSP00000262189.6:p.Trp4352Ter
ENST00000355193.6:c.13055G>A	ENSP00000347325.3:p.Trp4352Ter
ENST00000360104.7:c.5736G>A
ENST00000424877.5:c.2906G>A	ENSP00000410411.1:p.Trp969Ter
ENST00000473186.5:n.10937G>A
ENST00000558084.5:c.*10575G>A	ENSP00000453752.1:n.*10575G>A
NM_170606.2:c.13055G>A	NP_733751.2:p.Trp4352Ter
XM_005250025.3:c.13271G>A	XP_005250082.1:p.Trp4424Ter
XM_005250026.2:c.13268G>A	XP_005250083.1:p.Trp4423Ter
XM_005250027.3:c.13268G>A	XP_005250084.1:p.Trp4423Ter
XM_005250028.3:c.13271G>A	XP_005250085.1:p.Trp4424Ter
XM_005250031.3:c.13106G>A	XP_005250088.1:p.Trp4369Ter
XM_006716077.2:c.13268G>A	XP_006716140.1:p.Trp4423Ter
XM_006716078.2:c.13199G>A	XP_006716141.1:p.Trp4400Ter
XM_006716079.2:c.13103G>A	XP_006716142.1:p.Trp4368Ter
XM_011516450.1:c.13223G>A	XP_011514752.1:p.Trp4408Ter
XM_011516451.1:c.13151G>A	XP_011514753.1:p.Trp4384Ter
XM_011516452.1:c.13118G>A	XP_011514754.1:p.Trp4373Ter
XM_011516453.1:c.13034G>A	XP_011514755.1:p.Trp4345Ter
XM_011516454.1:c.12356G>A	XP_011514756.1:p.Trp4119Ter
XM_011516455.1:c.10817G>A	XP_011514757.1:p.Trp3606Ter
XM_011516456.1:c.13223G>A	XP_011514758.1:p.Trp4408Ter
XM_005250025.4:c.13271G>A	XP_005250082.1:p.Trp4424Ter
XM_005250026.3:c.13268G>A	XP_005250083.1:p.Trp4423Ter
XM_005250027.4:c.13268G>A	XP_005250084.1:p.Trp4423Ter
XM_005250028.4:c.13271G>A	XP_005250085.1:p.Trp4424Ter
XM_005250031.4:c.13106G>A	XP_005250088.1:p.Trp4369Ter
XM_006716077.3:c.13268G>A	XP_006716140.1:p.Trp4423Ter
XM_006716078.3:c.13199G>A	XP_006716141.1:p.Trp4400Ter
XM_006716079.3:c.13103G>A	XP_006716142.1:p.Trp4368Ter
XM_011516450.2:c.13223G>A	XP_011514752.1:p.Trp4408Ter
XM_011516451.2:c.13151G>A	XP_011514753.1:p.Trp4384Ter
XM_011516452.2:c.13118G>A	XP_011514754.1:p.Trp4373Ter
XM_011516453.2:c.13034G>A	XP_011514755.1:p.Trp4345Ter
XM_011516454.2:c.12356G>A	XP_011514756.1:p.Trp4119Ter
XM_011516456.2:c.13223G>A	XP_011514758.1:p.Trp4408Ter
XM_017012480.1:c.13271G>A	XP_016867969.1:p.Trp4424Ter
XM_017012481.1:c.13268G>A	XP_016867970.1:p.Trp4423Ter
XM_017012482.1:c.13268G>A	XP_016867971.1:p.Trp4423Ter
XM_017012483.1:c.13268G>A	XP_016867972.1:p.Trp4423Ter
XM_017012484.1:c.13238G>A	XP_016867973.1:p.Trp4413Ter
XM_017012485.1:c.13220G>A	XP_016867974.1:p.Trp4407Ter
XM_017012486.1:c.13196G>A	XP_016867975.1:p.Trp4399Ter
XM_017012487.1:c.13124G>A	XP_016867976.1:p.Trp4375Ter
XM_017012488.1:c.13088G>A	XP_016867977.1:p.Trp4363Ter
XM_017012489.1:c.9941G>A	XP_016867978.1:p.Trp3314Ter
XM_017012490.2:c.9545G>A	XP_016867979.1:p.Trp3182Ter
XM_024446852.1:c.13268G>A	XP_024302620.1:p.Trp4423Ter
XM_024446853.1:c.13196G>A	XP_024302621.1:p.Trp4399Ter
NM_170606.3:c.13055G>A MANE Select	NP_733751.2:p.Trp4352Ter