Canonical Allele Identifier: CA370093336

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148869-C-T
• MyVariant Identifiers: chr7:g.151845954C>T (hg19) ; chr7:g.152148869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148869C>T , CM000669.2:g.152148869C>T	GRCh38
NC_000007.13:g.151845954C>T , CM000669.1:g.151845954C>T	GRCh37
NC_000007.12:g.151476887C>T	NCBI36
NG_033948.1:g.292137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1246G>A
ENST00000682116.1:n.2190G>A
ENST00000682283.1:c.13229G>A	ENSP00000507485.1:p.Arg4410Lys
ENST00000682629.1:n.2358G>A
ENST00000683120.1:n.8250G>A
ENST00000683178.1:c.3631G>A
ENST00000683200.1:c.10568G>A	ENSP00000508052.1:p.Arg3523Lys
ENST00000683337.1:n.4688G>A
ENST00000683502.1:c.3703G>A
ENST00000683621.1:n.1824G>A
ENST00000683640.1:n.1774G>A
ENST00000684069.1:c.1475G>A	ENSP00000507650.1:p.Arg492Lys
ENST00000684261.1:c.7955G>A	ENSP00000508097.1:p.Arg2652Lys
ENST00000684649.1:c.3703G>A
ENST00000262189.11:c.13058G>A MANE Select	ENSP00000262189.6:p.Arg4353Lys
ENST00000360104.8:c.8845G>A
ENST00000418061.2:c.3700G>A
ENST00000424877.6:c.3634G>A
ENST00000679393.1:n.7769G>A
ENST00000679560.1:c.7958G>A	ENSP00000505094.1:p.Arg2653Lys
ENST00000679882.1:c.12623G>A	ENSP00000506154.1:p.Arg4208Lys
ENST00000680029.1:c.3635G>A
ENST00000680877.1:c.7958G>A	ENSP00000505724.1:p.Arg2653Lys
ENST00000681923.1:n.2073G>A
ENST00000262189.10:c.13058G>A	ENSP00000262189.6:p.Arg4353Lys
ENST00000355193.6:c.13058G>A	ENSP00000347325.3:p.Arg4353Lys
ENST00000360104.7:c.5739G>A
ENST00000424877.5:c.2909G>A	ENSP00000410411.1:p.Arg970Lys
ENST00000473186.5:n.10940G>A
ENST00000558084.5:c.*10578G>A	ENSP00000453752.1:n.*10578G>A
NM_170606.2:c.13058G>A	NP_733751.2:p.Arg4353Lys
XM_005250025.3:c.13274G>A	XP_005250082.1:p.Arg4425Lys
XM_005250026.2:c.13271G>A	XP_005250083.1:p.Arg4424Lys
XM_005250027.3:c.13271G>A	XP_005250084.1:p.Arg4424Lys
XM_005250028.3:c.13274G>A	XP_005250085.1:p.Arg4425Lys
XM_005250031.3:c.13109G>A	XP_005250088.1:p.Arg4370Lys
XM_006716077.2:c.13271G>A	XP_006716140.1:p.Arg4424Lys
XM_006716078.2:c.13202G>A	XP_006716141.1:p.Arg4401Lys
XM_006716079.2:c.13106G>A	XP_006716142.1:p.Arg4369Lys
XM_011516450.1:c.13226G>A	XP_011514752.1:p.Arg4409Lys
XM_011516451.1:c.13154G>A	XP_011514753.1:p.Arg4385Lys
XM_011516452.1:c.13121G>A	XP_011514754.1:p.Arg4374Lys
XM_011516453.1:c.13037G>A	XP_011514755.1:p.Arg4346Lys
XM_011516454.1:c.12359G>A	XP_011514756.1:p.Arg4120Lys
XM_011516455.1:c.10820G>A	XP_011514757.1:p.Arg3607Lys
XM_011516456.1:c.13226G>A	XP_011514758.1:p.Arg4409Lys
XM_005250025.4:c.13274G>A	XP_005250082.1:p.Arg4425Lys
XM_005250026.3:c.13271G>A	XP_005250083.1:p.Arg4424Lys
XM_005250027.4:c.13271G>A	XP_005250084.1:p.Arg4424Lys
XM_005250028.4:c.13274G>A	XP_005250085.1:p.Arg4425Lys
XM_005250031.4:c.13109G>A	XP_005250088.1:p.Arg4370Lys
XM_006716077.3:c.13271G>A	XP_006716140.1:p.Arg4424Lys
XM_006716078.3:c.13202G>A	XP_006716141.1:p.Arg4401Lys
XM_006716079.3:c.13106G>A	XP_006716142.1:p.Arg4369Lys
XM_011516450.2:c.13226G>A	XP_011514752.1:p.Arg4409Lys
XM_011516451.2:c.13154G>A	XP_011514753.1:p.Arg4385Lys
XM_011516452.2:c.13121G>A	XP_011514754.1:p.Arg4374Lys
XM_011516453.2:c.13037G>A	XP_011514755.1:p.Arg4346Lys
XM_011516454.2:c.12359G>A	XP_011514756.1:p.Arg4120Lys
XM_011516456.2:c.13226G>A	XP_011514758.1:p.Arg4409Lys
XM_017012480.1:c.13274G>A	XP_016867969.1:p.Arg4425Lys
XM_017012481.1:c.13271G>A	XP_016867970.1:p.Arg4424Lys
XM_017012482.1:c.13271G>A	XP_016867971.1:p.Arg4424Lys
XM_017012483.1:c.13271G>A	XP_016867972.1:p.Arg4424Lys
XM_017012484.1:c.13241G>A	XP_016867973.1:p.Arg4414Lys
XM_017012485.1:c.13223G>A	XP_016867974.1:p.Arg4408Lys
XM_017012486.1:c.13199G>A	XP_016867975.1:p.Arg4400Lys
XM_017012487.1:c.13127G>A	XP_016867976.1:p.Arg4376Lys
XM_017012488.1:c.13091G>A	XP_016867977.1:p.Arg4364Lys
XM_017012489.1:c.9944G>A	XP_016867978.1:p.Arg3315Lys
XM_017012490.2:c.9548G>A	XP_016867979.1:p.Arg3183Lys
XM_024446852.1:c.13271G>A	XP_024302620.1:p.Arg4424Lys
XM_024446853.1:c.13199G>A	XP_024302621.1:p.Arg4400Lys
NM_170606.3:c.13058G>A MANE Select	NP_733751.2:p.Arg4353Lys