Canonical Allele Identifier: CA370093093

Gene: KMT2C

Linked Data

• dbSNP Id: rs1388655093
• gnomAD v2: 7-151845885-T-G
• gnomAD v4: 7-152148800-T-G
• MyVariant Identifiers: chr7:g.151845885T>G (hg19) ; chr7:g.152148800T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148800T>G , CM000669.2:g.152148800T>G	GRCh38
NC_000007.13:g.151845885T>G , CM000669.1:g.151845885T>G	GRCh37
NC_000007.12:g.151476818T>G	NCBI36
NG_033948.1:g.292206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1315A>C
ENST00000682116.1:n.2259A>C
ENST00000682283.1:c.13298A>C	ENSP00000507485.1:p.Glu4433Ala
ENST00000682629.1:n.2427A>C
ENST00000683120.1:n.8319A>C
ENST00000683178.1:c.3700A>C
ENST00000683200.1:c.10637A>C	ENSP00000508052.1:p.Glu3546Ala
ENST00000683337.1:n.4757A>C
ENST00000683502.1:c.3772A>C
ENST00000683621.1:n.1893A>C
ENST00000683640.1:n.1843A>C
ENST00000684069.1:c.1544A>C	ENSP00000507650.1:p.Glu515Ala
ENST00000684261.1:c.8024A>C	ENSP00000508097.1:p.Glu2675Ala
ENST00000684649.1:c.3772A>C
ENST00000262189.11:c.13127A>C MANE Select	ENSP00000262189.6:p.Glu4376Ala
ENST00000360104.8:c.8914A>C
ENST00000418061.2:c.3769A>C
ENST00000424877.6:c.3703A>C
ENST00000679393.1:n.7838A>C
ENST00000679560.1:c.8027A>C	ENSP00000505094.1:p.Glu2676Ala
ENST00000679882.1:c.12692A>C	ENSP00000506154.1:p.Glu4231Ala
ENST00000680029.1:c.3704A>C
ENST00000680877.1:c.8027A>C	ENSP00000505724.1:p.Glu2676Ala
ENST00000681923.1:n.2142A>C
ENST00000262189.10:c.13127A>C	ENSP00000262189.6:p.Glu4376Ala
ENST00000355193.6:c.13127A>C	ENSP00000347325.3:p.Glu4376Ala
ENST00000360104.7:c.5808A>C
ENST00000424877.5:c.2978A>C	ENSP00000410411.1:p.Glu993Ala
ENST00000473186.5:n.11009A>C
ENST00000558084.5:c.*10647A>C	ENSP00000453752.1:n.*10647A>C
NM_170606.2:c.13127A>C	NP_733751.2:p.Glu4376Ala
XM_005250025.3:c.13343A>C	XP_005250082.1:p.Glu4448Ala
XM_005250026.2:c.13340A>C	XP_005250083.1:p.Glu4447Ala
XM_005250027.3:c.13340A>C	XP_005250084.1:p.Glu4447Ala
XM_005250028.3:c.13343A>C	XP_005250085.1:p.Glu4448Ala
XM_005250031.3:c.13178A>C	XP_005250088.1:p.Glu4393Ala
XM_006716077.2:c.13340A>C	XP_006716140.1:p.Glu4447Ala
XM_006716078.2:c.13271A>C	XP_006716141.1:p.Glu4424Ala
XM_006716079.2:c.13175A>C	XP_006716142.1:p.Glu4392Ala
XM_011516450.1:c.13295A>C	XP_011514752.1:p.Glu4432Ala
XM_011516451.1:c.13223A>C	XP_011514753.1:p.Glu4408Ala
XM_011516452.1:c.13190A>C	XP_011514754.1:p.Glu4397Ala
XM_011516453.1:c.13106A>C	XP_011514755.1:p.Glu4369Ala
XM_011516454.1:c.12428A>C	XP_011514756.1:p.Glu4143Ala
XM_011516455.1:c.10889A>C	XP_011514757.1:p.Glu3630Ala
XM_011516456.1:c.13295A>C	XP_011514758.1:p.Glu4432Ala
XM_005250025.4:c.13343A>C	XP_005250082.1:p.Glu4448Ala
XM_005250026.3:c.13340A>C	XP_005250083.1:p.Glu4447Ala
XM_005250027.4:c.13340A>C	XP_005250084.1:p.Glu4447Ala
XM_005250028.4:c.13343A>C	XP_005250085.1:p.Glu4448Ala
XM_005250031.4:c.13178A>C	XP_005250088.1:p.Glu4393Ala
XM_006716077.3:c.13340A>C	XP_006716140.1:p.Glu4447Ala
XM_006716078.3:c.13271A>C	XP_006716141.1:p.Glu4424Ala
XM_006716079.3:c.13175A>C	XP_006716142.1:p.Glu4392Ala
XM_011516450.2:c.13295A>C	XP_011514752.1:p.Glu4432Ala
XM_011516451.2:c.13223A>C	XP_011514753.1:p.Glu4408Ala
XM_011516452.2:c.13190A>C	XP_011514754.1:p.Glu4397Ala
XM_011516453.2:c.13106A>C	XP_011514755.1:p.Glu4369Ala
XM_011516454.2:c.12428A>C	XP_011514756.1:p.Glu4143Ala
XM_011516456.2:c.13295A>C	XP_011514758.1:p.Glu4432Ala
XM_017012480.1:c.13343A>C	XP_016867969.1:p.Glu4448Ala
XM_017012481.1:c.13340A>C	XP_016867970.1:p.Glu4447Ala
XM_017012482.1:c.13340A>C	XP_016867971.1:p.Glu4447Ala
XM_017012483.1:c.13340A>C	XP_016867972.1:p.Glu4447Ala
XM_017012484.1:c.13310A>C	XP_016867973.1:p.Glu4437Ala
XM_017012485.1:c.13292A>C	XP_016867974.1:p.Glu4431Ala
XM_017012486.1:c.13268A>C	XP_016867975.1:p.Glu4423Ala
XM_017012487.1:c.13196A>C	XP_016867976.1:p.Glu4399Ala
XM_017012488.1:c.13160A>C	XP_016867977.1:p.Glu4387Ala
XM_017012489.1:c.10013A>C	XP_016867978.1:p.Glu3338Ala
XM_017012490.2:c.9617A>C	XP_016867979.1:p.Glu3206Ala
XM_024446852.1:c.13340A>C	XP_024302620.1:p.Glu4447Ala
XM_024446853.1:c.13268A>C	XP_024302621.1:p.Glu4423Ala
NM_170606.3:c.13127A>C MANE Select	NP_733751.2:p.Glu4376Ala