Canonical Allele Identifier: CA370090413

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148330G>A , CM000669.2:g.152148330G>A	GRCh38
NC_000007.13:g.151845415G>A , CM000669.1:g.151845415G>A	GRCh37
NC_000007.12:g.151476348G>A	NCBI36
NG_033948.1:g.292676C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.13597C>T MANE Select	NP_733751.2:p.Arg4533Ter
ENST00000262189.11:c.13597C>T MANE Select	ENSP00000262189.6:p.Arg4533Ter
NM_170606.2:c.13597C>T	NP_733751.2:p.Arg4533Ter
ENST00000262189.10:c.13597C>T	ENSP00000262189.6:p.Arg4533Ter
ENST00000355193.6:c.13597C>T	ENSP00000347325.3:p.Arg4533Ter
ENST00000360104.7:c.6278C>T
ENST00000360104.8:c.9384C>T
ENST00000418061.2:c.4239C>T
ENST00000424877.5:c.3448C>T	ENSP00000410411.1:p.Arg1150Ter
ENST00000424877.6:c.4173C>T
ENST00000473186.5:n.11479C>T
ENST00000558084.5:c.*11117C>T	ENSP00000453752.1:n.*11117C>T
ENST00000679393.1:n.8308C>T
ENST00000679560.1:c.8497C>T	ENSP00000505094.1:p.Arg2833Ter
ENST00000679567.1:n.82C>T
ENST00000679882.1:c.13162C>T	ENSP00000506154.1:p.Arg4388Ter
ENST00000680029.1:c.4174C>T
ENST00000680877.1:c.8497C>T	ENSP00000505724.1:p.Arg2833Ter
ENST00000681923.1:n.2612C>T
ENST00000682040.1:c.1785C>T
ENST00000682116.1:n.2729C>T
ENST00000682283.1:c.13768C>T	ENSP00000507485.1:p.Arg4590Ter
ENST00000682629.1:n.2897C>T
ENST00000683120.1:n.8789C>T
ENST00000683178.1:c.4170C>T
ENST00000683200.1:c.11107C>T	ENSP00000508052.1:p.Arg3703Ter
ENST00000683337.1:n.5227C>T
ENST00000683502.1:c.4242C>T
ENST00000683621.1:n.2363C>T
ENST00000683640.1:n.2313C>T
ENST00000684069.1:c.2014C>T	ENSP00000507650.1:p.Arg672Ter
ENST00000684261.1:c.8494C>T	ENSP00000508097.1:p.Arg2832Ter
ENST00000684391.1:n.355C>T
ENST00000684649.1:c.4242C>T
XM_005250025.3:c.13813C>T	XP_005250082.1:p.Arg4605Ter
XM_005250025.4:c.13813C>T	XP_005250082.1:p.Arg4605Ter
XM_005250026.2:c.13810C>T	XP_005250083.1:p.Arg4604Ter
XM_005250026.3:c.13810C>T	XP_005250083.1:p.Arg4604Ter
XM_005250027.3:c.13810C>T	XP_005250084.1:p.Arg4604Ter
XM_005250027.4:c.13810C>T	XP_005250084.1:p.Arg4604Ter
XM_005250028.3:c.13813C>T	XP_005250085.1:p.Arg4605Ter
XM_005250028.4:c.13813C>T	XP_005250085.1:p.Arg4605Ter
XM_005250031.3:c.13648C>T	XP_005250088.1:p.Arg4550Ter
XM_005250031.4:c.13648C>T	XP_005250088.1:p.Arg4550Ter
XM_006716077.2:c.13810C>T	XP_006716140.1:p.Arg4604Ter
XM_006716077.3:c.13810C>T	XP_006716140.1:p.Arg4604Ter
XM_006716078.2:c.13741C>T	XP_006716141.1:p.Arg4581Ter
XM_006716078.3:c.13741C>T	XP_006716141.1:p.Arg4581Ter
XM_006716079.2:c.13645C>T	XP_006716142.1:p.Arg4549Ter
XM_006716079.3:c.13645C>T	XP_006716142.1:p.Arg4549Ter
XM_011516450.1:c.13765C>T	XP_011514752.1:p.Arg4589Ter
XM_011516450.2:c.13765C>T	XP_011514752.1:p.Arg4589Ter
XM_011516451.1:c.13693C>T	XP_011514753.1:p.Arg4565Ter
XM_011516451.2:c.13693C>T	XP_011514753.1:p.Arg4565Ter
XM_011516452.1:c.13660C>T	XP_011514754.1:p.Arg4554Ter
XM_011516452.2:c.13660C>T	XP_011514754.1:p.Arg4554Ter
XM_011516453.1:c.13576C>T	XP_011514755.1:p.Arg4526Ter
XM_011516453.2:c.13576C>T	XP_011514755.1:p.Arg4526Ter
XM_011516454.1:c.12898C>T	XP_011514756.1:p.Arg4300Ter
XM_011516454.2:c.12898C>T	XP_011514756.1:p.Arg4300Ter
XM_011516455.1:c.11359C>T	XP_011514757.1:p.Arg3787Ter
XM_011516456.1:c.13765C>T	XP_011514758.1:p.Arg4589Ter
XM_011516456.2:c.13765C>T	XP_011514758.1:p.Arg4589Ter
XM_017012480.1:c.13813C>T	XP_016867969.1:p.Arg4605Ter
XM_017012481.1:c.13810C>T	XP_016867970.1:p.Arg4604Ter
XM_017012482.1:c.13810C>T	XP_016867971.1:p.Arg4604Ter
XM_017012483.1:c.13810C>T	XP_016867972.1:p.Arg4604Ter
XM_017012484.1:c.13780C>T	XP_016867973.1:p.Arg4594Ter
XM_017012485.1:c.13762C>T	XP_016867974.1:p.Arg4588Ter
XM_017012486.1:c.13738C>T	XP_016867975.1:p.Arg4580Ter
XM_017012487.1:c.13666C>T	XP_016867976.1:p.Arg4556Ter
XM_017012488.1:c.13630C>T	XP_016867977.1:p.Arg4544Ter
XM_017012489.1:c.10483C>T	XP_016867978.1:p.Arg3495Ter
XM_017012490.2:c.10087C>T	XP_016867979.1:p.Arg3363Ter
XM_024446852.1:c.13810C>T	XP_024302620.1:p.Arg4604Ter
XM_024446853.1:c.13738C>T	XP_024302621.1:p.Arg4580Ter