Canonical Allele Identifier: CA370093175

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148824-T-C
• MyVariant Identifiers: chr7:g.151845909T>C (hg19) ; chr7:g.152148824T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148824T>C , CM000669.2:g.152148824T>C	GRCh38
NC_000007.13:g.151845909T>C , CM000669.1:g.151845909T>C	GRCh37
NC_000007.12:g.151476842T>C	NCBI36
NG_033948.1:g.292182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1291A>G
ENST00000682116.1:n.2235A>G
ENST00000682283.1:c.13274A>G	ENSP00000507485.1:p.Lys4425Arg
ENST00000682629.1:n.2403A>G
ENST00000683120.1:n.8295A>G
ENST00000683178.1:c.3676A>G
ENST00000683200.1:c.10613A>G	ENSP00000508052.1:p.Lys3538Arg
ENST00000683337.1:n.4733A>G
ENST00000683502.1:c.3748A>G
ENST00000683621.1:n.1869A>G
ENST00000683640.1:n.1819A>G
ENST00000684069.1:c.1520A>G	ENSP00000507650.1:p.Lys507Arg
ENST00000684261.1:c.8000A>G	ENSP00000508097.1:p.Lys2667Arg
ENST00000684649.1:c.3748A>G
ENST00000262189.11:c.13103A>G MANE Select	ENSP00000262189.6:p.Lys4368Arg
ENST00000360104.8:c.8890A>G
ENST00000418061.2:c.3745A>G
ENST00000424877.6:c.3679A>G
ENST00000679393.1:n.7814A>G
ENST00000679560.1:c.8003A>G	ENSP00000505094.1:p.Lys2668Arg
ENST00000679882.1:c.12668A>G	ENSP00000506154.1:p.Lys4223Arg
ENST00000680029.1:c.3680A>G
ENST00000680877.1:c.8003A>G	ENSP00000505724.1:p.Lys2668Arg
ENST00000681923.1:n.2118A>G
ENST00000262189.10:c.13103A>G	ENSP00000262189.6:p.Lys4368Arg
ENST00000355193.6:c.13103A>G	ENSP00000347325.3:p.Lys4368Arg
ENST00000360104.7:c.5784A>G
ENST00000424877.5:c.2954A>G	ENSP00000410411.1:p.Lys985Arg
ENST00000473186.5:n.10985A>G
ENST00000558084.5:c.*10623A>G	ENSP00000453752.1:n.*10623A>G
NM_170606.2:c.13103A>G	NP_733751.2:p.Lys4368Arg
XM_005250025.3:c.13319A>G	XP_005250082.1:p.Lys4440Arg
XM_005250026.2:c.13316A>G	XP_005250083.1:p.Lys4439Arg
XM_005250027.3:c.13316A>G	XP_005250084.1:p.Lys4439Arg
XM_005250028.3:c.13319A>G	XP_005250085.1:p.Lys4440Arg
XM_005250031.3:c.13154A>G	XP_005250088.1:p.Lys4385Arg
XM_006716077.2:c.13316A>G	XP_006716140.1:p.Lys4439Arg
XM_006716078.2:c.13247A>G	XP_006716141.1:p.Lys4416Arg
XM_006716079.2:c.13151A>G	XP_006716142.1:p.Lys4384Arg
XM_011516450.1:c.13271A>G	XP_011514752.1:p.Lys4424Arg
XM_011516451.1:c.13199A>G	XP_011514753.1:p.Lys4400Arg
XM_011516452.1:c.13166A>G	XP_011514754.1:p.Lys4389Arg
XM_011516453.1:c.13082A>G	XP_011514755.1:p.Lys4361Arg
XM_011516454.1:c.12404A>G	XP_011514756.1:p.Lys4135Arg
XM_011516455.1:c.10865A>G	XP_011514757.1:p.Lys3622Arg
XM_011516456.1:c.13271A>G	XP_011514758.1:p.Lys4424Arg
XM_005250025.4:c.13319A>G	XP_005250082.1:p.Lys4440Arg
XM_005250026.3:c.13316A>G	XP_005250083.1:p.Lys4439Arg
XM_005250027.4:c.13316A>G	XP_005250084.1:p.Lys4439Arg
XM_005250028.4:c.13319A>G	XP_005250085.1:p.Lys4440Arg
XM_005250031.4:c.13154A>G	XP_005250088.1:p.Lys4385Arg
XM_006716077.3:c.13316A>G	XP_006716140.1:p.Lys4439Arg
XM_006716078.3:c.13247A>G	XP_006716141.1:p.Lys4416Arg
XM_006716079.3:c.13151A>G	XP_006716142.1:p.Lys4384Arg
XM_011516450.2:c.13271A>G	XP_011514752.1:p.Lys4424Arg
XM_011516451.2:c.13199A>G	XP_011514753.1:p.Lys4400Arg
XM_011516452.2:c.13166A>G	XP_011514754.1:p.Lys4389Arg
XM_011516453.2:c.13082A>G	XP_011514755.1:p.Lys4361Arg
XM_011516454.2:c.12404A>G	XP_011514756.1:p.Lys4135Arg
XM_011516456.2:c.13271A>G	XP_011514758.1:p.Lys4424Arg
XM_017012480.1:c.13319A>G	XP_016867969.1:p.Lys4440Arg
XM_017012481.1:c.13316A>G	XP_016867970.1:p.Lys4439Arg
XM_017012482.1:c.13316A>G	XP_016867971.1:p.Lys4439Arg
XM_017012483.1:c.13316A>G	XP_016867972.1:p.Lys4439Arg
XM_017012484.1:c.13286A>G	XP_016867973.1:p.Lys4429Arg
XM_017012485.1:c.13268A>G	XP_016867974.1:p.Lys4423Arg
XM_017012486.1:c.13244A>G	XP_016867975.1:p.Lys4415Arg
XM_017012487.1:c.13172A>G	XP_016867976.1:p.Lys4391Arg
XM_017012488.1:c.13136A>G	XP_016867977.1:p.Lys4379Arg
XM_017012489.1:c.9989A>G	XP_016867978.1:p.Lys3330Arg
XM_017012490.2:c.9593A>G	XP_016867979.1:p.Lys3198Arg
XM_024446852.1:c.13316A>G	XP_024302620.1:p.Lys4439Arg
XM_024446853.1:c.13244A>G	XP_024302621.1:p.Lys4415Arg
NM_170606.3:c.13103A>G MANE Select	NP_733751.2:p.Lys4368Arg