Canonical Allele Identifier: CA370093183

Gene: KMT2C

Linked Data

• dbSNP Id: rs1587689148
• MyVariant Identifiers: chr7:g.151845912G>C (hg19) ; chr7:g.152148827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148827G>C , CM000669.2:g.152148827G>C	GRCh38
NC_000007.13:g.151845912G>C , CM000669.1:g.151845912G>C	GRCh37
NC_000007.12:g.151476845G>C	NCBI36
NG_033948.1:g.292179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1288C>G
ENST00000682116.1:n.2232C>G
ENST00000682283.1:c.13271C>G	ENSP00000507485.1:p.Pro4424Arg
ENST00000682629.1:n.2400C>G
ENST00000683120.1:n.8292C>G
ENST00000683178.1:c.3673C>G
ENST00000683200.1:c.10610C>G	ENSP00000508052.1:p.Pro3537Arg
ENST00000683337.1:n.4730C>G
ENST00000683502.1:c.3745C>G
ENST00000683621.1:n.1866C>G
ENST00000683640.1:n.1816C>G
ENST00000684069.1:c.1517C>G	ENSP00000507650.1:p.Pro506Arg
ENST00000684261.1:c.7997C>G	ENSP00000508097.1:p.Pro2666Arg
ENST00000684649.1:c.3745C>G
ENST00000262189.11:c.13100C>G MANE Select	ENSP00000262189.6:p.Pro4367Arg
ENST00000360104.8:c.8887C>G
ENST00000418061.2:c.3742C>G
ENST00000424877.6:c.3676C>G
ENST00000679393.1:n.7811C>G
ENST00000679560.1:c.8000C>G	ENSP00000505094.1:p.Pro2667Arg
ENST00000679882.1:c.12665C>G	ENSP00000506154.1:p.Pro4222Arg
ENST00000680029.1:c.3677C>G
ENST00000680877.1:c.8000C>G	ENSP00000505724.1:p.Pro2667Arg
ENST00000681923.1:n.2115C>G
ENST00000262189.10:c.13100C>G	ENSP00000262189.6:p.Pro4367Arg
ENST00000355193.6:c.13100C>G	ENSP00000347325.3:p.Pro4367Arg
ENST00000360104.7:c.5781C>G
ENST00000424877.5:c.2951C>G	ENSP00000410411.1:p.Pro984Arg
ENST00000473186.5:n.10982C>G
ENST00000558084.5:c.*10620C>G	ENSP00000453752.1:n.*10620C>G
NM_170606.2:c.13100C>G	NP_733751.2:p.Pro4367Arg
XM_005250025.3:c.13316C>G	XP_005250082.1:p.Pro4439Arg
XM_005250026.2:c.13313C>G	XP_005250083.1:p.Pro4438Arg
XM_005250027.3:c.13313C>G	XP_005250084.1:p.Pro4438Arg
XM_005250028.3:c.13316C>G	XP_005250085.1:p.Pro4439Arg
XM_005250031.3:c.13151C>G	XP_005250088.1:p.Pro4384Arg
XM_006716077.2:c.13313C>G	XP_006716140.1:p.Pro4438Arg
XM_006716078.2:c.13244C>G	XP_006716141.1:p.Pro4415Arg
XM_006716079.2:c.13148C>G	XP_006716142.1:p.Pro4383Arg
XM_011516450.1:c.13268C>G	XP_011514752.1:p.Pro4423Arg
XM_011516451.1:c.13196C>G	XP_011514753.1:p.Pro4399Arg
XM_011516452.1:c.13163C>G	XP_011514754.1:p.Pro4388Arg
XM_011516453.1:c.13079C>G	XP_011514755.1:p.Pro4360Arg
XM_011516454.1:c.12401C>G	XP_011514756.1:p.Pro4134Arg
XM_011516455.1:c.10862C>G	XP_011514757.1:p.Pro3621Arg
XM_011516456.1:c.13268C>G	XP_011514758.1:p.Pro4423Arg
XM_005250025.4:c.13316C>G	XP_005250082.1:p.Pro4439Arg
XM_005250026.3:c.13313C>G	XP_005250083.1:p.Pro4438Arg
XM_005250027.4:c.13313C>G	XP_005250084.1:p.Pro4438Arg
XM_005250028.4:c.13316C>G	XP_005250085.1:p.Pro4439Arg
XM_005250031.4:c.13151C>G	XP_005250088.1:p.Pro4384Arg
XM_006716077.3:c.13313C>G	XP_006716140.1:p.Pro4438Arg
XM_006716078.3:c.13244C>G	XP_006716141.1:p.Pro4415Arg
XM_006716079.3:c.13148C>G	XP_006716142.1:p.Pro4383Arg
XM_011516450.2:c.13268C>G	XP_011514752.1:p.Pro4423Arg
XM_011516451.2:c.13196C>G	XP_011514753.1:p.Pro4399Arg
XM_011516452.2:c.13163C>G	XP_011514754.1:p.Pro4388Arg
XM_011516453.2:c.13079C>G	XP_011514755.1:p.Pro4360Arg
XM_011516454.2:c.12401C>G	XP_011514756.1:p.Pro4134Arg
XM_011516456.2:c.13268C>G	XP_011514758.1:p.Pro4423Arg
XM_017012480.1:c.13316C>G	XP_016867969.1:p.Pro4439Arg
XM_017012481.1:c.13313C>G	XP_016867970.1:p.Pro4438Arg
XM_017012482.1:c.13313C>G	XP_016867971.1:p.Pro4438Arg
XM_017012483.1:c.13313C>G	XP_016867972.1:p.Pro4438Arg
XM_017012484.1:c.13283C>G	XP_016867973.1:p.Pro4428Arg
XM_017012485.1:c.13265C>G	XP_016867974.1:p.Pro4422Arg
XM_017012486.1:c.13241C>G	XP_016867975.1:p.Pro4414Arg
XM_017012487.1:c.13169C>G	XP_016867976.1:p.Pro4390Arg
XM_017012488.1:c.13133C>G	XP_016867977.1:p.Pro4378Arg
XM_017012489.1:c.9986C>G	XP_016867978.1:p.Pro3329Arg
XM_017012490.2:c.9590C>G	XP_016867979.1:p.Pro3197Arg
XM_024446852.1:c.13313C>G	XP_024302620.1:p.Pro4438Arg
XM_024446853.1:c.13241C>G	XP_024302621.1:p.Pro4414Arg
NM_170606.3:c.13100C>G MANE Select	NP_733751.2:p.Pro4367Arg