Canonical Allele Identifier: CA169220834

Gene: KMT2C

Linked Data

• dbSNP Id: rs983346356
• gnomAD v4: 7-152148787-A-G
• MyVariant Identifiers: chr7:g.151845872A>G (hg19) ; chr7:g.152148787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148787A>G , CM000669.2:g.152148787A>G	GRCh38
NC_000007.13:g.151845872A>G , CM000669.1:g.151845872A>G	GRCh37
NC_000007.12:g.151476805A>G	NCBI36
NG_033948.1:g.292219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1328T>C
ENST00000682116.1:n.2272T>C
ENST00000682283.1:c.13311T>C	ENSP00000507485.1:p.Asp4437=
ENST00000682629.1:n.2440T>C
ENST00000683120.1:n.8332T>C
ENST00000683178.1:c.3713T>C
ENST00000683200.1:c.10650T>C	ENSP00000508052.1:p.Asp3550=
ENST00000683337.1:n.4770T>C
ENST00000683502.1:c.3785T>C
ENST00000683621.1:n.1906T>C
ENST00000683640.1:n.1856T>C
ENST00000684069.1:c.1557T>C	ENSP00000507650.1:p.Asp519=
ENST00000684261.1:c.8037T>C	ENSP00000508097.1:p.Asp2679=
ENST00000684649.1:c.3785T>C
ENST00000262189.11:c.13140T>C MANE Select	ENSP00000262189.6:p.Asp4380=
ENST00000360104.8:c.8927T>C
ENST00000418061.2:c.3782T>C
ENST00000424877.6:c.3716T>C
ENST00000679393.1:n.7851T>C
ENST00000679560.1:c.8040T>C	ENSP00000505094.1:p.Asp2680=
ENST00000679882.1:c.12705T>C	ENSP00000506154.1:p.Asp4235=
ENST00000680029.1:c.3717T>C
ENST00000680877.1:c.8040T>C	ENSP00000505724.1:p.Asp2680=
ENST00000681923.1:n.2155T>C
ENST00000262189.10:c.13140T>C	ENSP00000262189.6:p.Asp4380=
ENST00000355193.6:c.13140T>C	ENSP00000347325.3:p.Asp4380=
ENST00000360104.7:c.5821T>C
ENST00000424877.5:c.2991T>C	ENSP00000410411.1:p.Asp997=
ENST00000473186.5:n.11022T>C
ENST00000558084.5:c.*10660T>C	ENSP00000453752.1:n.*10660T>C
NM_170606.2:c.13140T>C	NP_733751.2:p.Asp4380=
XM_005250025.3:c.13356T>C	XP_005250082.1:p.Asp4452=
XM_005250026.2:c.13353T>C	XP_005250083.1:p.Asp4451=
XM_005250027.3:c.13353T>C	XP_005250084.1:p.Asp4451=
XM_005250028.3:c.13356T>C	XP_005250085.1:p.Asp4452=
XM_005250031.3:c.13191T>C	XP_005250088.1:p.Asp4397=
XM_006716077.2:c.13353T>C	XP_006716140.1:p.Asp4451=
XM_006716078.2:c.13284T>C	XP_006716141.1:p.Asp4428=
XM_006716079.2:c.13188T>C	XP_006716142.1:p.Asp4396=
XM_011516450.1:c.13308T>C	XP_011514752.1:p.Asp4436=
XM_011516451.1:c.13236T>C	XP_011514753.1:p.Asp4412=
XM_011516452.1:c.13203T>C	XP_011514754.1:p.Asp4401=
XM_011516453.1:c.13119T>C	XP_011514755.1:p.Asp4373=
XM_011516454.1:c.12441T>C	XP_011514756.1:p.Asp4147=
XM_011516455.1:c.10902T>C	XP_011514757.1:p.Asp3634=
XM_011516456.1:c.13308T>C	XP_011514758.1:p.Asp4436=
XM_005250025.4:c.13356T>C	XP_005250082.1:p.Asp4452=
XM_005250026.3:c.13353T>C	XP_005250083.1:p.Asp4451=
XM_005250027.4:c.13353T>C	XP_005250084.1:p.Asp4451=
XM_005250028.4:c.13356T>C	XP_005250085.1:p.Asp4452=
XM_005250031.4:c.13191T>C	XP_005250088.1:p.Asp4397=
XM_006716077.3:c.13353T>C	XP_006716140.1:p.Asp4451=
XM_006716078.3:c.13284T>C	XP_006716141.1:p.Asp4428=
XM_006716079.3:c.13188T>C	XP_006716142.1:p.Asp4396=
XM_011516450.2:c.13308T>C	XP_011514752.1:p.Asp4436=
XM_011516451.2:c.13236T>C	XP_011514753.1:p.Asp4412=
XM_011516452.2:c.13203T>C	XP_011514754.1:p.Asp4401=
XM_011516453.2:c.13119T>C	XP_011514755.1:p.Asp4373=
XM_011516454.2:c.12441T>C	XP_011514756.1:p.Asp4147=
XM_011516456.2:c.13308T>C	XP_011514758.1:p.Asp4436=
XM_017012480.1:c.13356T>C	XP_016867969.1:p.Asp4452=
XM_017012481.1:c.13353T>C	XP_016867970.1:p.Asp4451=
XM_017012482.1:c.13353T>C	XP_016867971.1:p.Asp4451=
XM_017012483.1:c.13353T>C	XP_016867972.1:p.Asp4451=
XM_017012484.1:c.13323T>C	XP_016867973.1:p.Asp4441=
XM_017012485.1:c.13305T>C	XP_016867974.1:p.Asp4435=
XM_017012486.1:c.13281T>C	XP_016867975.1:p.Asp4427=
XM_017012487.1:c.13209T>C	XP_016867976.1:p.Asp4403=
XM_017012488.1:c.13173T>C	XP_016867977.1:p.Asp4391=
XM_017012489.1:c.10026T>C	XP_016867978.1:p.Asp3342=
XM_017012490.2:c.9630T>C	XP_016867979.1:p.Asp3210=
XM_024446852.1:c.13353T>C	XP_024302620.1:p.Asp4451=
XM_024446853.1:c.13281T>C	XP_024302621.1:p.Asp4427=
NM_170606.3:c.13140T>C MANE Select	NP_733751.2:p.Asp4380=