Canonical Allele Identifier: CA370093315

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845948A>G (hg19) ; chr7:g.152148863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148863A>G , CM000669.2:g.152148863A>G	GRCh38
NC_000007.13:g.151845948A>G , CM000669.1:g.151845948A>G	GRCh37
NC_000007.12:g.151476881A>G	NCBI36
NG_033948.1:g.292143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1252T>C
ENST00000682116.1:n.2196T>C
ENST00000682283.1:c.13235T>C	ENSP00000507485.1:p.Met4412Thr
ENST00000682629.1:n.2364T>C
ENST00000683120.1:n.8256T>C
ENST00000683178.1:c.3637T>C
ENST00000683200.1:c.10574T>C	ENSP00000508052.1:p.Met3525Thr
ENST00000683337.1:n.4694T>C
ENST00000683502.1:c.3709T>C
ENST00000683621.1:n.1830T>C
ENST00000683640.1:n.1780T>C
ENST00000684069.1:c.1481T>C	ENSP00000507650.1:p.Met494Thr
ENST00000684261.1:c.7961T>C	ENSP00000508097.1:p.Met2654Thr
ENST00000684649.1:c.3709T>C
ENST00000262189.11:c.13064T>C MANE Select	ENSP00000262189.6:p.Met4355Thr
ENST00000360104.8:c.8851T>C
ENST00000418061.2:c.3706T>C
ENST00000424877.6:c.3640T>C
ENST00000679393.1:n.7775T>C
ENST00000679560.1:c.7964T>C	ENSP00000505094.1:p.Met2655Thr
ENST00000679882.1:c.12629T>C	ENSP00000506154.1:p.Met4210Thr
ENST00000680029.1:c.3641T>C
ENST00000680877.1:c.7964T>C	ENSP00000505724.1:p.Met2655Thr
ENST00000681923.1:n.2079T>C
ENST00000262189.10:c.13064T>C	ENSP00000262189.6:p.Met4355Thr
ENST00000355193.6:c.13064T>C	ENSP00000347325.3:p.Met4355Thr
ENST00000360104.7:c.5745T>C
ENST00000424877.5:c.2915T>C	ENSP00000410411.1:p.Met972Thr
ENST00000473186.5:n.10946T>C
ENST00000558084.5:c.*10584T>C	ENSP00000453752.1:n.*10584T>C
NM_170606.2:c.13064T>C	NP_733751.2:p.Met4355Thr
XM_005250025.3:c.13280T>C	XP_005250082.1:p.Met4427Thr
XM_005250026.2:c.13277T>C	XP_005250083.1:p.Met4426Thr
XM_005250027.3:c.13277T>C	XP_005250084.1:p.Met4426Thr
XM_005250028.3:c.13280T>C	XP_005250085.1:p.Met4427Thr
XM_005250031.3:c.13115T>C	XP_005250088.1:p.Met4372Thr
XM_006716077.2:c.13277T>C	XP_006716140.1:p.Met4426Thr
XM_006716078.2:c.13208T>C	XP_006716141.1:p.Met4403Thr
XM_006716079.2:c.13112T>C	XP_006716142.1:p.Met4371Thr
XM_011516450.1:c.13232T>C	XP_011514752.1:p.Met4411Thr
XM_011516451.1:c.13160T>C	XP_011514753.1:p.Met4387Thr
XM_011516452.1:c.13127T>C	XP_011514754.1:p.Met4376Thr
XM_011516453.1:c.13043T>C	XP_011514755.1:p.Met4348Thr
XM_011516454.1:c.12365T>C	XP_011514756.1:p.Met4122Thr
XM_011516455.1:c.10826T>C	XP_011514757.1:p.Met3609Thr
XM_011516456.1:c.13232T>C	XP_011514758.1:p.Met4411Thr
XM_005250025.4:c.13280T>C	XP_005250082.1:p.Met4427Thr
XM_005250026.3:c.13277T>C	XP_005250083.1:p.Met4426Thr
XM_005250027.4:c.13277T>C	XP_005250084.1:p.Met4426Thr
XM_005250028.4:c.13280T>C	XP_005250085.1:p.Met4427Thr
XM_005250031.4:c.13115T>C	XP_005250088.1:p.Met4372Thr
XM_006716077.3:c.13277T>C	XP_006716140.1:p.Met4426Thr
XM_006716078.3:c.13208T>C	XP_006716141.1:p.Met4403Thr
XM_006716079.3:c.13112T>C	XP_006716142.1:p.Met4371Thr
XM_011516450.2:c.13232T>C	XP_011514752.1:p.Met4411Thr
XM_011516451.2:c.13160T>C	XP_011514753.1:p.Met4387Thr
XM_011516452.2:c.13127T>C	XP_011514754.1:p.Met4376Thr
XM_011516453.2:c.13043T>C	XP_011514755.1:p.Met4348Thr
XM_011516454.2:c.12365T>C	XP_011514756.1:p.Met4122Thr
XM_011516456.2:c.13232T>C	XP_011514758.1:p.Met4411Thr
XM_017012480.1:c.13280T>C	XP_016867969.1:p.Met4427Thr
XM_017012481.1:c.13277T>C	XP_016867970.1:p.Met4426Thr
XM_017012482.1:c.13277T>C	XP_016867971.1:p.Met4426Thr
XM_017012483.1:c.13277T>C	XP_016867972.1:p.Met4426Thr
XM_017012484.1:c.13247T>C	XP_016867973.1:p.Met4416Thr
XM_017012485.1:c.13229T>C	XP_016867974.1:p.Met4410Thr
XM_017012486.1:c.13205T>C	XP_016867975.1:p.Met4402Thr
XM_017012487.1:c.13133T>C	XP_016867976.1:p.Met4378Thr
XM_017012488.1:c.13097T>C	XP_016867977.1:p.Met4366Thr
XM_017012489.1:c.9950T>C	XP_016867978.1:p.Met3317Thr
XM_017012490.2:c.9554T>C	XP_016867979.1:p.Met3185Thr
XM_024446852.1:c.13277T>C	XP_024302620.1:p.Met4426Thr
XM_024446853.1:c.13205T>C	XP_024302621.1:p.Met4402Thr
NM_170606.3:c.13064T>C MANE Select	NP_733751.2:p.Met4355Thr