Canonical Allele Identifier: CA370091841

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845765G>T (hg19) ; chr7:g.152148680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148680G>T , CM000669.2:g.152148680G>T	GRCh38
NC_000007.13:g.151845765G>T , CM000669.1:g.151845765G>T	GRCh37
NC_000007.12:g.151476698G>T	NCBI36
NG_033948.1:g.292326C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1435C>A
ENST00000682116.1:n.2379C>A
ENST00000682283.1:c.13418C>A	ENSP00000507485.1:p.Pro4473Gln
ENST00000682629.1:n.2547C>A
ENST00000683120.1:n.8439C>A
ENST00000683178.1:c.3820C>A
ENST00000683200.1:c.10757C>A	ENSP00000508052.1:p.Pro3586Gln
ENST00000683337.1:n.4877C>A
ENST00000683502.1:c.3892C>A
ENST00000683621.1:n.2013C>A
ENST00000683640.1:n.1963C>A
ENST00000684069.1:c.1664C>A	ENSP00000507650.1:p.Pro555Gln
ENST00000684261.1:c.8144C>A	ENSP00000508097.1:p.Pro2715Gln
ENST00000684391.1:n.5C>A
ENST00000684649.1:c.3892C>A
ENST00000262189.11:c.13247C>A MANE Select	ENSP00000262189.6:p.Pro4416Gln
ENST00000360104.8:c.9034C>A
ENST00000418061.2:c.3889C>A
ENST00000424877.6:c.3823C>A
ENST00000679393.1:n.7958C>A
ENST00000679560.1:c.8147C>A	ENSP00000505094.1:p.Pro2716Gln
ENST00000679882.1:c.12812C>A	ENSP00000506154.1:p.Pro4271Gln
ENST00000680029.1:c.3824C>A
ENST00000680877.1:c.8147C>A	ENSP00000505724.1:p.Pro2716Gln
ENST00000681923.1:n.2262C>A
ENST00000262189.10:c.13247C>A	ENSP00000262189.6:p.Pro4416Gln
ENST00000355193.6:c.13247C>A	ENSP00000347325.3:p.Pro4416Gln
ENST00000360104.7:c.5928C>A
ENST00000424877.5:c.3098C>A	ENSP00000410411.1:p.Pro1033Gln
ENST00000473186.5:n.11129C>A
ENST00000558084.5:c.*10767C>A	ENSP00000453752.1:n.*10767C>A
NM_170606.2:c.13247C>A	NP_733751.2:p.Pro4416Gln
XM_005250025.3:c.13463C>A	XP_005250082.1:p.Pro4488Gln
XM_005250026.2:c.13460C>A	XP_005250083.1:p.Pro4487Gln
XM_005250027.3:c.13460C>A	XP_005250084.1:p.Pro4487Gln
XM_005250028.3:c.13463C>A	XP_005250085.1:p.Pro4488Gln
XM_005250031.3:c.13298C>A	XP_005250088.1:p.Pro4433Gln
XM_006716077.2:c.13460C>A	XP_006716140.1:p.Pro4487Gln
XM_006716078.2:c.13391C>A	XP_006716141.1:p.Pro4464Gln
XM_006716079.2:c.13295C>A	XP_006716142.1:p.Pro4432Gln
XM_011516450.1:c.13415C>A	XP_011514752.1:p.Pro4472Gln
XM_011516451.1:c.13343C>A	XP_011514753.1:p.Pro4448Gln
XM_011516452.1:c.13310C>A	XP_011514754.1:p.Pro4437Gln
XM_011516453.1:c.13226C>A	XP_011514755.1:p.Pro4409Gln
XM_011516454.1:c.12548C>A	XP_011514756.1:p.Pro4183Gln
XM_011516455.1:c.11009C>A	XP_011514757.1:p.Pro3670Gln
XM_011516456.1:c.13415C>A	XP_011514758.1:p.Pro4472Gln
XM_005250025.4:c.13463C>A	XP_005250082.1:p.Pro4488Gln
XM_005250026.3:c.13460C>A	XP_005250083.1:p.Pro4487Gln
XM_005250027.4:c.13460C>A	XP_005250084.1:p.Pro4487Gln
XM_005250028.4:c.13463C>A	XP_005250085.1:p.Pro4488Gln
XM_005250031.4:c.13298C>A	XP_005250088.1:p.Pro4433Gln
XM_006716077.3:c.13460C>A	XP_006716140.1:p.Pro4487Gln
XM_006716078.3:c.13391C>A	XP_006716141.1:p.Pro4464Gln
XM_006716079.3:c.13295C>A	XP_006716142.1:p.Pro4432Gln
XM_011516450.2:c.13415C>A	XP_011514752.1:p.Pro4472Gln
XM_011516451.2:c.13343C>A	XP_011514753.1:p.Pro4448Gln
XM_011516452.2:c.13310C>A	XP_011514754.1:p.Pro4437Gln
XM_011516453.2:c.13226C>A	XP_011514755.1:p.Pro4409Gln
XM_011516454.2:c.12548C>A	XP_011514756.1:p.Pro4183Gln
XM_011516456.2:c.13415C>A	XP_011514758.1:p.Pro4472Gln
XM_017012480.1:c.13463C>A	XP_016867969.1:p.Pro4488Gln
XM_017012481.1:c.13460C>A	XP_016867970.1:p.Pro4487Gln
XM_017012482.1:c.13460C>A	XP_016867971.1:p.Pro4487Gln
XM_017012483.1:c.13460C>A	XP_016867972.1:p.Pro4487Gln
XM_017012484.1:c.13430C>A	XP_016867973.1:p.Pro4477Gln
XM_017012485.1:c.13412C>A	XP_016867974.1:p.Pro4471Gln
XM_017012486.1:c.13388C>A	XP_016867975.1:p.Pro4463Gln
XM_017012487.1:c.13316C>A	XP_016867976.1:p.Pro4439Gln
XM_017012488.1:c.13280C>A	XP_016867977.1:p.Pro4427Gln
XM_017012489.1:c.10133C>A	XP_016867978.1:p.Pro3378Gln
XM_017012490.2:c.9737C>A	XP_016867979.1:p.Pro3246Gln
XM_024446852.1:c.13460C>A	XP_024302620.1:p.Pro4487Gln
XM_024446853.1:c.13388C>A	XP_024302621.1:p.Pro4463Gln
NM_170606.3:c.13247C>A MANE Select	NP_733751.2:p.Pro4416Gln