Canonical Allele Identifier: CA370093193

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845915A>G (hg19) ; chr7:g.152148830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148830A>G , CM000669.2:g.152148830A>G	GRCh38
NC_000007.13:g.151845915A>G , CM000669.1:g.151845915A>G	GRCh37
NC_000007.12:g.151476848A>G	NCBI36
NG_033948.1:g.292176T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1285T>C
ENST00000682116.1:n.2229T>C
ENST00000682283.1:c.13268T>C	ENSP00000507485.1:p.Ile4423Thr
ENST00000682629.1:n.2397T>C
ENST00000683120.1:n.8289T>C
ENST00000683178.1:c.3670T>C
ENST00000683200.1:c.10607T>C	ENSP00000508052.1:p.Ile3536Thr
ENST00000683337.1:n.4727T>C
ENST00000683502.1:c.3742T>C
ENST00000683621.1:n.1863T>C
ENST00000683640.1:n.1813T>C
ENST00000684069.1:c.1514T>C	ENSP00000507650.1:p.Ile505Thr
ENST00000684261.1:c.7994T>C	ENSP00000508097.1:p.Ile2665Thr
ENST00000684649.1:c.3742T>C
ENST00000262189.11:c.13097T>C MANE Select	ENSP00000262189.6:p.Ile4366Thr
ENST00000360104.8:c.8884T>C
ENST00000418061.2:c.3739T>C
ENST00000424877.6:c.3673T>C
ENST00000679393.1:n.7808T>C
ENST00000679560.1:c.7997T>C	ENSP00000505094.1:p.Ile2666Thr
ENST00000679882.1:c.12662T>C	ENSP00000506154.1:p.Ile4221Thr
ENST00000680029.1:c.3674T>C
ENST00000680877.1:c.7997T>C	ENSP00000505724.1:p.Ile2666Thr
ENST00000681923.1:n.2112T>C
ENST00000262189.10:c.13097T>C	ENSP00000262189.6:p.Ile4366Thr
ENST00000355193.6:c.13097T>C	ENSP00000347325.3:p.Ile4366Thr
ENST00000360104.7:c.5778T>C
ENST00000424877.5:c.2948T>C	ENSP00000410411.1:p.Ile983Thr
ENST00000473186.5:n.10979T>C
ENST00000558084.5:c.*10617T>C	ENSP00000453752.1:n.*10617T>C
NM_170606.2:c.13097T>C	NP_733751.2:p.Ile4366Thr
XM_005250025.3:c.13313T>C	XP_005250082.1:p.Ile4438Thr
XM_005250026.2:c.13310T>C	XP_005250083.1:p.Ile4437Thr
XM_005250027.3:c.13310T>C	XP_005250084.1:p.Ile4437Thr
XM_005250028.3:c.13313T>C	XP_005250085.1:p.Ile4438Thr
XM_005250031.3:c.13148T>C	XP_005250088.1:p.Ile4383Thr
XM_006716077.2:c.13310T>C	XP_006716140.1:p.Ile4437Thr
XM_006716078.2:c.13241T>C	XP_006716141.1:p.Ile4414Thr
XM_006716079.2:c.13145T>C	XP_006716142.1:p.Ile4382Thr
XM_011516450.1:c.13265T>C	XP_011514752.1:p.Ile4422Thr
XM_011516451.1:c.13193T>C	XP_011514753.1:p.Ile4398Thr
XM_011516452.1:c.13160T>C	XP_011514754.1:p.Ile4387Thr
XM_011516453.1:c.13076T>C	XP_011514755.1:p.Ile4359Thr
XM_011516454.1:c.12398T>C	XP_011514756.1:p.Ile4133Thr
XM_011516455.1:c.10859T>C	XP_011514757.1:p.Ile3620Thr
XM_011516456.1:c.13265T>C	XP_011514758.1:p.Ile4422Thr
XM_005250025.4:c.13313T>C	XP_005250082.1:p.Ile4438Thr
XM_005250026.3:c.13310T>C	XP_005250083.1:p.Ile4437Thr
XM_005250027.4:c.13310T>C	XP_005250084.1:p.Ile4437Thr
XM_005250028.4:c.13313T>C	XP_005250085.1:p.Ile4438Thr
XM_005250031.4:c.13148T>C	XP_005250088.1:p.Ile4383Thr
XM_006716077.3:c.13310T>C	XP_006716140.1:p.Ile4437Thr
XM_006716078.3:c.13241T>C	XP_006716141.1:p.Ile4414Thr
XM_006716079.3:c.13145T>C	XP_006716142.1:p.Ile4382Thr
XM_011516450.2:c.13265T>C	XP_011514752.1:p.Ile4422Thr
XM_011516451.2:c.13193T>C	XP_011514753.1:p.Ile4398Thr
XM_011516452.2:c.13160T>C	XP_011514754.1:p.Ile4387Thr
XM_011516453.2:c.13076T>C	XP_011514755.1:p.Ile4359Thr
XM_011516454.2:c.12398T>C	XP_011514756.1:p.Ile4133Thr
XM_011516456.2:c.13265T>C	XP_011514758.1:p.Ile4422Thr
XM_017012480.1:c.13313T>C	XP_016867969.1:p.Ile4438Thr
XM_017012481.1:c.13310T>C	XP_016867970.1:p.Ile4437Thr
XM_017012482.1:c.13310T>C	XP_016867971.1:p.Ile4437Thr
XM_017012483.1:c.13310T>C	XP_016867972.1:p.Ile4437Thr
XM_017012484.1:c.13280T>C	XP_016867973.1:p.Ile4427Thr
XM_017012485.1:c.13262T>C	XP_016867974.1:p.Ile4421Thr
XM_017012486.1:c.13238T>C	XP_016867975.1:p.Ile4413Thr
XM_017012487.1:c.13166T>C	XP_016867976.1:p.Ile4389Thr
XM_017012488.1:c.13130T>C	XP_016867977.1:p.Ile4377Thr
XM_017012489.1:c.9983T>C	XP_016867978.1:p.Ile3328Thr
XM_017012490.2:c.9587T>C	XP_016867979.1:p.Ile3196Thr
XM_024446852.1:c.13310T>C	XP_024302620.1:p.Ile4437Thr
XM_024446853.1:c.13238T>C	XP_024302621.1:p.Ile4413Thr
NM_170606.3:c.13097T>C MANE Select	NP_733751.2:p.Ile4366Thr