Canonical Allele Identifier: CA370100492

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151880223T>A (hg19) ; chr7:g.152183138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183138T>A , CM000669.2:g.152183138T>A	GRCh38
NC_000007.13:g.151880223T>A , CM000669.1:g.151880223T>A	GRCh37
NC_000007.12:g.151511156T>A	NCBI36
NG_033948.1:g.257868A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682176.1:c.1820A>T
ENST00000682283.1:c.5101A>T	ENSP00000507485.1:p.Arg1701Ter
ENST00000683159.1:c.576-544A>T
ENST00000683200.1:c.2449A>T	ENSP00000508052.1:p.Arg817Ter
ENST00000262189.11:c.5101A>T MANE Select	ENSP00000262189.6:p.Arg1701Ter
ENST00000360104.8:c.723A>T
ENST00000679645.1:c.*1194A>T	ENSP00000505745.1:n.*1194A>T
ENST00000679882.1:c.4876A>T	ENSP00000506154.1:p.Arg1626Ter
ENST00000680969.1:c.2497A>T	ENSP00000505951.1:p.Arg833Ter
ENST00000681033.1:c.3799A>T	ENSP00000505058.1:p.Arg1267Ter
ENST00000681755.1:n.26A>T
ENST00000262189.10:c.5101A>T	ENSP00000262189.6:p.Arg1701Ter
ENST00000355193.6:c.5101A>T	ENSP00000347325.3:p.Arg1701Ter
ENST00000473186.5:n.2812A>T
ENST00000558084.5:c.*2621A>T	ENSP00000453752.1:n.*2621A>T
NM_170606.2:c.5101A>T	NP_733751.2:p.Arg1701Ter
XM_005250025.3:c.5152A>T	XP_005250082.1:p.Arg1718Ter
XM_005250026.2:c.5149A>T	XP_005250083.1:p.Arg1717Ter
XM_005250027.3:c.5152A>T	XP_005250084.1:p.Arg1718Ter
XM_005250028.3:c.5152A>T	XP_005250085.1:p.Arg1718Ter
XM_005250031.3:c.5152A>T	XP_005250088.1:p.Arg1718Ter
XM_006716077.2:c.5152A>T	XP_006716140.1:p.Arg1718Ter
XM_006716078.2:c.5152A>T	XP_006716141.1:p.Arg1718Ter
XM_006716079.2:c.5152A>T	XP_006716142.1:p.Arg1718Ter
XM_011516450.1:c.5104A>T	XP_011514752.1:p.Arg1702Ter
XM_011516451.1:c.5032A>T	XP_011514753.1:p.Arg1678Ter
XM_011516452.1:c.4999A>T	XP_011514754.1:p.Arg1667Ter
XM_011516453.1:c.5152A>T	XP_011514755.1:p.Arg1718Ter
XM_011516454.1:c.4237A>T	XP_011514756.1:p.Arg1413Ter
XM_011516455.1:c.2698A>T	XP_011514757.1:p.Arg900Ter
XM_011516456.1:c.5104A>T	XP_011514758.1:p.Arg1702Ter
XR_428183.2:n.5360A>T
XM_005250025.4:c.5152A>T	XP_005250082.1:p.Arg1718Ter
XM_005250026.3:c.5149A>T	XP_005250083.1:p.Arg1717Ter
XM_005250027.4:c.5152A>T	XP_005250084.1:p.Arg1718Ter
XM_005250028.4:c.5152A>T	XP_005250085.1:p.Arg1718Ter
XM_005250031.4:c.5152A>T	XP_005250088.1:p.Arg1718Ter
XM_006716077.3:c.5152A>T	XP_006716140.1:p.Arg1718Ter
XM_006716078.3:c.5152A>T	XP_006716141.1:p.Arg1718Ter
XM_006716079.3:c.5152A>T	XP_006716142.1:p.Arg1718Ter
XM_011516450.2:c.5104A>T	XP_011514752.1:p.Arg1702Ter
XM_011516451.2:c.5032A>T	XP_011514753.1:p.Arg1678Ter
XM_011516452.2:c.4999A>T	XP_011514754.1:p.Arg1667Ter
XM_011516453.2:c.5152A>T	XP_011514755.1:p.Arg1718Ter
XM_011516454.2:c.4237A>T	XP_011514756.1:p.Arg1413Ter
XM_011516456.2:c.5104A>T	XP_011514758.1:p.Arg1702Ter
XM_017012480.1:c.5152A>T	XP_016867969.1:p.Arg1718Ter
XM_017012481.1:c.5149A>T	XP_016867970.1:p.Arg1717Ter
XM_017012482.1:c.5152A>T	XP_016867971.1:p.Arg1718Ter
XM_017012483.1:c.5152A>T	XP_016867972.1:p.Arg1718Ter
XM_017012484.1:c.5119A>T	XP_016867973.1:p.Arg1707Ter
XM_017012485.1:c.5101A>T	XP_016867974.1:p.Arg1701Ter
XM_017012486.1:c.5152A>T	XP_016867975.1:p.Arg1718Ter
XM_017012487.1:c.5005A>T	XP_016867976.1:p.Arg1669Ter
XM_017012488.1:c.5134-544A>T	XP_016867977.1:n.5134-544A>T
XM_017012489.1:c.1822A>T	XP_016867978.1:p.Arg608Ter
XM_017012490.2:c.1426A>T	XP_016867979.1:p.Arg476Ter
XM_024446852.1:c.5149A>T	XP_024302620.1:p.Arg1717Ter
XM_024446853.1:c.5152A>T	XP_024302621.1:p.Arg1718Ter
XR_428183.3:n.5384A>T
NM_170606.3:c.5101A>T MANE Select	NP_733751.2:p.Arg1701Ter