Canonical Allele Identifier: CA370093312

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845947C>T (hg19) ; chr7:g.152148862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148862C>T , CM000669.2:g.152148862C>T	GRCh38
NC_000007.13:g.151845947C>T , CM000669.1:g.151845947C>T	GRCh37
NC_000007.12:g.151476880C>T	NCBI36
NG_033948.1:g.292144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1253G>A
ENST00000682116.1:n.2197G>A
ENST00000682283.1:c.13236G>A	ENSP00000507485.1:p.Met4412Ile
ENST00000682629.1:n.2365G>A
ENST00000683120.1:n.8257G>A
ENST00000683178.1:c.3638G>A
ENST00000683200.1:c.10575G>A	ENSP00000508052.1:p.Met3525Ile
ENST00000683337.1:n.4695G>A
ENST00000683502.1:c.3710G>A
ENST00000683621.1:n.1831G>A
ENST00000683640.1:n.1781G>A
ENST00000684069.1:c.1482G>A	ENSP00000507650.1:p.Met494Ile
ENST00000684261.1:c.7962G>A	ENSP00000508097.1:p.Met2654Ile
ENST00000684649.1:c.3710G>A
ENST00000262189.11:c.13065G>A MANE Select	ENSP00000262189.6:p.Met4355Ile
ENST00000360104.8:c.8852G>A
ENST00000418061.2:c.3707G>A
ENST00000424877.6:c.3641G>A
ENST00000679393.1:n.7776G>A
ENST00000679560.1:c.7965G>A	ENSP00000505094.1:p.Met2655Ile
ENST00000679882.1:c.12630G>A	ENSP00000506154.1:p.Met4210Ile
ENST00000680029.1:c.3642G>A
ENST00000680877.1:c.7965G>A	ENSP00000505724.1:p.Met2655Ile
ENST00000681923.1:n.2080G>A
ENST00000262189.10:c.13065G>A	ENSP00000262189.6:p.Met4355Ile
ENST00000355193.6:c.13065G>A	ENSP00000347325.3:p.Met4355Ile
ENST00000360104.7:c.5746G>A
ENST00000424877.5:c.2916G>A	ENSP00000410411.1:p.Met972Ile
ENST00000473186.5:n.10947G>A
ENST00000558084.5:c.*10585G>A	ENSP00000453752.1:n.*10585G>A
NM_170606.2:c.13065G>A	NP_733751.2:p.Met4355Ile
XM_005250025.3:c.13281G>A	XP_005250082.1:p.Met4427Ile
XM_005250026.2:c.13278G>A	XP_005250083.1:p.Met4426Ile
XM_005250027.3:c.13278G>A	XP_005250084.1:p.Met4426Ile
XM_005250028.3:c.13281G>A	XP_005250085.1:p.Met4427Ile
XM_005250031.3:c.13116G>A	XP_005250088.1:p.Met4372Ile
XM_006716077.2:c.13278G>A	XP_006716140.1:p.Met4426Ile
XM_006716078.2:c.13209G>A	XP_006716141.1:p.Met4403Ile
XM_006716079.2:c.13113G>A	XP_006716142.1:p.Met4371Ile
XM_011516450.1:c.13233G>A	XP_011514752.1:p.Met4411Ile
XM_011516451.1:c.13161G>A	XP_011514753.1:p.Met4387Ile
XM_011516452.1:c.13128G>A	XP_011514754.1:p.Met4376Ile
XM_011516453.1:c.13044G>A	XP_011514755.1:p.Met4348Ile
XM_011516454.1:c.12366G>A	XP_011514756.1:p.Met4122Ile
XM_011516455.1:c.10827G>A	XP_011514757.1:p.Met3609Ile
XM_011516456.1:c.13233G>A	XP_011514758.1:p.Met4411Ile
XM_005250025.4:c.13281G>A	XP_005250082.1:p.Met4427Ile
XM_005250026.3:c.13278G>A	XP_005250083.1:p.Met4426Ile
XM_005250027.4:c.13278G>A	XP_005250084.1:p.Met4426Ile
XM_005250028.4:c.13281G>A	XP_005250085.1:p.Met4427Ile
XM_005250031.4:c.13116G>A	XP_005250088.1:p.Met4372Ile
XM_006716077.3:c.13278G>A	XP_006716140.1:p.Met4426Ile
XM_006716078.3:c.13209G>A	XP_006716141.1:p.Met4403Ile
XM_006716079.3:c.13113G>A	XP_006716142.1:p.Met4371Ile
XM_011516450.2:c.13233G>A	XP_011514752.1:p.Met4411Ile
XM_011516451.2:c.13161G>A	XP_011514753.1:p.Met4387Ile
XM_011516452.2:c.13128G>A	XP_011514754.1:p.Met4376Ile
XM_011516453.2:c.13044G>A	XP_011514755.1:p.Met4348Ile
XM_011516454.2:c.12366G>A	XP_011514756.1:p.Met4122Ile
XM_011516456.2:c.13233G>A	XP_011514758.1:p.Met4411Ile
XM_017012480.1:c.13281G>A	XP_016867969.1:p.Met4427Ile
XM_017012481.1:c.13278G>A	XP_016867970.1:p.Met4426Ile
XM_017012482.1:c.13278G>A	XP_016867971.1:p.Met4426Ile
XM_017012483.1:c.13278G>A	XP_016867972.1:p.Met4426Ile
XM_017012484.1:c.13248G>A	XP_016867973.1:p.Met4416Ile
XM_017012485.1:c.13230G>A	XP_016867974.1:p.Met4410Ile
XM_017012486.1:c.13206G>A	XP_016867975.1:p.Met4402Ile
XM_017012487.1:c.13134G>A	XP_016867976.1:p.Met4378Ile
XM_017012488.1:c.13098G>A	XP_016867977.1:p.Met4366Ile
XM_017012489.1:c.9951G>A	XP_016867978.1:p.Met3317Ile
XM_017012490.2:c.9555G>A	XP_016867979.1:p.Met3185Ile
XM_024446852.1:c.13278G>A	XP_024302620.1:p.Met4426Ile
XM_024446853.1:c.13206G>A	XP_024302621.1:p.Met4402Ile
NM_170606.3:c.13065G>A MANE Select	NP_733751.2:p.Met4355Ile