Canonical Allele Identifier: CA2685724394

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152183217-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183217T>A , CM000669.2:g.152183217T>A	GRCh38
NC_000007.13:g.151880302T>A , CM000669.1:g.151880302T>A	GRCh37
NC_000007.12:g.151511235T>A	NCBI36
NG_033948.1:g.257789A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.1802-61A>T
ENST00000682283.1:c.5083-61A>T	ENSP00000507485.1:n.5083-61A>T
ENST00000683159.1:c.576-623A>T
ENST00000683200.1:c.2431-61A>T	ENSP00000508052.1:n.2431-61A>T
ENST00000262189.11:c.5083-61A>T MANE Select	ENSP00000262189.6:n.5083-61A>T
ENST00000360104.8:c.705-61A>T
ENST00000679645.1:c.*1176-61A>T	ENSP00000505745.1:n.*1176-61A>T
ENST00000679882.1:c.4858-61A>T	ENSP00000506154.1:n.4858-61A>T
ENST00000680969.1:c.2479-61A>T	ENSP00000505951.1:n.2479-61A>T
ENST00000681033.1:c.3781-61A>T	ENSP00000505058.1:n.3781-61A>T
ENST00000262189.10:c.5083-61A>T	ENSP00000262189.6:n.5083-61A>T
ENST00000355193.6:c.5083-61A>T	ENSP00000347325.3:n.5083-61A>T
ENST00000473186.5:n.2794-61A>T
ENST00000558084.5:c.*2603-61A>T	ENSP00000453752.1:n.*2603-61A>T
NM_170606.2:c.5083-61A>T	NP_733751.2:n.5083-61A>T
XM_005250025.3:c.5134-61A>T	XP_005250082.1:n.5134-61A>T
XM_005250026.2:c.5131-61A>T	XP_005250083.1:n.5131-61A>T
XM_005250027.3:c.5134-61A>T	XP_005250084.1:n.5134-61A>T
XM_005250028.3:c.5134-61A>T	XP_005250085.1:n.5134-61A>T
XM_005250031.3:c.5134-61A>T	XP_005250088.1:n.5134-61A>T
XM_006716077.2:c.5134-61A>T	XP_006716140.1:n.5134-61A>T
XM_006716078.2:c.5134-61A>T	XP_006716141.1:n.5134-61A>T
XM_006716079.2:c.5134-61A>T	XP_006716142.1:n.5134-61A>T
XM_011516450.1:c.5086-61A>T	XP_011514752.1:n.5086-61A>T
XM_011516451.1:c.5014-61A>T	XP_011514753.1:n.5014-61A>T
XM_011516452.1:c.4981-61A>T	XP_011514754.1:n.4981-61A>T
XM_011516453.1:c.5134-61A>T	XP_011514755.1:n.5134-61A>T
XM_011516454.1:c.4219-61A>T	XP_011514756.1:n.4219-61A>T
XM_011516455.1:c.2680-61A>T	XP_011514757.1:n.2680-61A>T
XM_011516456.1:c.5086-61A>T	XP_011514758.1:n.5086-61A>T
XR_428183.2:n.5342-61A>T
XM_005250025.4:c.5134-61A>T	XP_005250082.1:n.5134-61A>T
XM_005250026.3:c.5131-61A>T	XP_005250083.1:n.5131-61A>T
XM_005250027.4:c.5134-61A>T	XP_005250084.1:n.5134-61A>T
XM_005250028.4:c.5134-61A>T	XP_005250085.1:n.5134-61A>T
XM_005250031.4:c.5134-61A>T	XP_005250088.1:n.5134-61A>T
XM_006716077.3:c.5134-61A>T	XP_006716140.1:n.5134-61A>T
XM_006716078.3:c.5134-61A>T	XP_006716141.1:n.5134-61A>T
XM_006716079.3:c.5134-61A>T	XP_006716142.1:n.5134-61A>T
XM_011516450.2:c.5086-61A>T	XP_011514752.1:n.5086-61A>T
XM_011516451.2:c.5014-61A>T	XP_011514753.1:n.5014-61A>T
XM_011516452.2:c.4981-61A>T	XP_011514754.1:n.4981-61A>T
XM_011516453.2:c.5134-61A>T	XP_011514755.1:n.5134-61A>T
XM_011516454.2:c.4219-61A>T	XP_011514756.1:n.4219-61A>T
XM_011516456.2:c.5086-61A>T	XP_011514758.1:n.5086-61A>T
XM_017012480.1:c.5134-61A>T	XP_016867969.1:n.5134-61A>T
XM_017012481.1:c.5131-61A>T	XP_016867970.1:n.5131-61A>T
XM_017012482.1:c.5134-61A>T	XP_016867971.1:n.5134-61A>T
XM_017012483.1:c.5134-61A>T	XP_016867972.1:n.5134-61A>T
XM_017012484.1:c.5101-61A>T	XP_016867973.1:n.5101-61A>T
XM_017012485.1:c.5083-61A>T	XP_016867974.1:n.5083-61A>T
XM_017012486.1:c.5134-61A>T	XP_016867975.1:n.5134-61A>T
XM_017012487.1:c.4987-61A>T	XP_016867976.1:n.4987-61A>T
XM_017012488.1:c.5134-623A>T	XP_016867977.1:n.5134-623A>T
XM_017012489.1:c.1804-61A>T	XP_016867978.1:n.1804-61A>T
XM_017012490.2:c.1408-61A>T	XP_016867979.1:n.1408-61A>T
XM_024446852.1:c.5131-61A>T	XP_024302620.1:n.5131-61A>T
XM_024446853.1:c.5134-61A>T	XP_024302621.1:n.5134-61A>T
XR_428183.3:n.5366-61A>T
NM_170606.3:c.5083-61A>T MANE Select	NP_733751.2:n.5083-61A>T