Canonical Allele Identifier: CA370093049

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845873T>G (hg19) ; chr7:g.152148788T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148788T>G , CM000669.2:g.152148788T>G	GRCh38
NC_000007.13:g.151845873T>G , CM000669.1:g.151845873T>G	GRCh37
NC_000007.12:g.151476806T>G	NCBI36
NG_033948.1:g.292218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1327A>C
ENST00000682116.1:n.2271A>C
ENST00000682283.1:c.13310A>C	ENSP00000507485.1:p.Asp4437Ala
ENST00000682629.1:n.2439A>C
ENST00000683120.1:n.8331A>C
ENST00000683178.1:c.3712A>C
ENST00000683200.1:c.10649A>C	ENSP00000508052.1:p.Asp3550Ala
ENST00000683337.1:n.4769A>C
ENST00000683502.1:c.3784A>C
ENST00000683621.1:n.1905A>C
ENST00000683640.1:n.1855A>C
ENST00000684069.1:c.1556A>C	ENSP00000507650.1:p.Asp519Ala
ENST00000684261.1:c.8036A>C	ENSP00000508097.1:p.Asp2679Ala
ENST00000684649.1:c.3784A>C
ENST00000262189.11:c.13139A>C MANE Select	ENSP00000262189.6:p.Asp4380Ala
ENST00000360104.8:c.8926A>C
ENST00000418061.2:c.3781A>C
ENST00000424877.6:c.3715A>C
ENST00000679393.1:n.7850A>C
ENST00000679560.1:c.8039A>C	ENSP00000505094.1:p.Asp2680Ala
ENST00000679882.1:c.12704A>C	ENSP00000506154.1:p.Asp4235Ala
ENST00000680029.1:c.3716A>C
ENST00000680877.1:c.8039A>C	ENSP00000505724.1:p.Asp2680Ala
ENST00000681923.1:n.2154A>C
ENST00000262189.10:c.13139A>C	ENSP00000262189.6:p.Asp4380Ala
ENST00000355193.6:c.13139A>C	ENSP00000347325.3:p.Asp4380Ala
ENST00000360104.7:c.5820A>C
ENST00000424877.5:c.2990A>C	ENSP00000410411.1:p.Asp997Ala
ENST00000473186.5:n.11021A>C
ENST00000558084.5:c.*10659A>C	ENSP00000453752.1:n.*10659A>C
NM_170606.2:c.13139A>C	NP_733751.2:p.Asp4380Ala
XM_005250025.3:c.13355A>C	XP_005250082.1:p.Asp4452Ala
XM_005250026.2:c.13352A>C	XP_005250083.1:p.Asp4451Ala
XM_005250027.3:c.13352A>C	XP_005250084.1:p.Asp4451Ala
XM_005250028.3:c.13355A>C	XP_005250085.1:p.Asp4452Ala
XM_005250031.3:c.13190A>C	XP_005250088.1:p.Asp4397Ala
XM_006716077.2:c.13352A>C	XP_006716140.1:p.Asp4451Ala
XM_006716078.2:c.13283A>C	XP_006716141.1:p.Asp4428Ala
XM_006716079.2:c.13187A>C	XP_006716142.1:p.Asp4396Ala
XM_011516450.1:c.13307A>C	XP_011514752.1:p.Asp4436Ala
XM_011516451.1:c.13235A>C	XP_011514753.1:p.Asp4412Ala
XM_011516452.1:c.13202A>C	XP_011514754.1:p.Asp4401Ala
XM_011516453.1:c.13118A>C	XP_011514755.1:p.Asp4373Ala
XM_011516454.1:c.12440A>C	XP_011514756.1:p.Asp4147Ala
XM_011516455.1:c.10901A>C	XP_011514757.1:p.Asp3634Ala
XM_011516456.1:c.13307A>C	XP_011514758.1:p.Asp4436Ala
XM_005250025.4:c.13355A>C	XP_005250082.1:p.Asp4452Ala
XM_005250026.3:c.13352A>C	XP_005250083.1:p.Asp4451Ala
XM_005250027.4:c.13352A>C	XP_005250084.1:p.Asp4451Ala
XM_005250028.4:c.13355A>C	XP_005250085.1:p.Asp4452Ala
XM_005250031.4:c.13190A>C	XP_005250088.1:p.Asp4397Ala
XM_006716077.3:c.13352A>C	XP_006716140.1:p.Asp4451Ala
XM_006716078.3:c.13283A>C	XP_006716141.1:p.Asp4428Ala
XM_006716079.3:c.13187A>C	XP_006716142.1:p.Asp4396Ala
XM_011516450.2:c.13307A>C	XP_011514752.1:p.Asp4436Ala
XM_011516451.2:c.13235A>C	XP_011514753.1:p.Asp4412Ala
XM_011516452.2:c.13202A>C	XP_011514754.1:p.Asp4401Ala
XM_011516453.2:c.13118A>C	XP_011514755.1:p.Asp4373Ala
XM_011516454.2:c.12440A>C	XP_011514756.1:p.Asp4147Ala
XM_011516456.2:c.13307A>C	XP_011514758.1:p.Asp4436Ala
XM_017012480.1:c.13355A>C	XP_016867969.1:p.Asp4452Ala
XM_017012481.1:c.13352A>C	XP_016867970.1:p.Asp4451Ala
XM_017012482.1:c.13352A>C	XP_016867971.1:p.Asp4451Ala
XM_017012483.1:c.13352A>C	XP_016867972.1:p.Asp4451Ala
XM_017012484.1:c.13322A>C	XP_016867973.1:p.Asp4441Ala
XM_017012485.1:c.13304A>C	XP_016867974.1:p.Asp4435Ala
XM_017012486.1:c.13280A>C	XP_016867975.1:p.Asp4427Ala
XM_017012487.1:c.13208A>C	XP_016867976.1:p.Asp4403Ala
XM_017012488.1:c.13172A>C	XP_016867977.1:p.Asp4391Ala
XM_017012489.1:c.10025A>C	XP_016867978.1:p.Asp3342Ala
XM_017012490.2:c.9629A>C	XP_016867979.1:p.Asp3210Ala
XM_024446852.1:c.13352A>C	XP_024302620.1:p.Asp4451Ala
XM_024446853.1:c.13280A>C	XP_024302621.1:p.Asp4427Ala
NM_170606.3:c.13139A>C MANE Select	NP_733751.2:p.Asp4380Ala