Canonical Allele Identifier: CA370093263

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095568
• MyVariant Identifiers: chr7:g.151845934A>T (hg19) ; chr7:g.152148849A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148849A>T , CM000669.2:g.152148849A>T	GRCh38
NC_000007.13:g.151845934A>T , CM000669.1:g.151845934A>T	GRCh37
NC_000007.12:g.151476867A>T	NCBI36
NG_033948.1:g.292157T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1266T>A
ENST00000682116.1:n.2210T>A
ENST00000682283.1:c.13249T>A	ENSP00000507485.1:p.Trp4417Arg
ENST00000682629.1:n.2378T>A
ENST00000683120.1:n.8270T>A
ENST00000683178.1:c.3651T>A
ENST00000683200.1:c.10588T>A	ENSP00000508052.1:p.Trp3530Arg
ENST00000683337.1:n.4708T>A
ENST00000683502.1:c.3723T>A
ENST00000683621.1:n.1844T>A
ENST00000683640.1:n.1794T>A
ENST00000684069.1:c.1495T>A	ENSP00000507650.1:p.Trp499Arg
ENST00000684261.1:c.7975T>A	ENSP00000508097.1:p.Trp2659Arg
ENST00000684649.1:c.3723T>A
ENST00000262189.11:c.13078T>A MANE Select	ENSP00000262189.6:p.Trp4360Arg
ENST00000360104.8:c.8865T>A
ENST00000418061.2:c.3720T>A
ENST00000424877.6:c.3654T>A
ENST00000679393.1:n.7789T>A
ENST00000679560.1:c.7978T>A	ENSP00000505094.1:p.Trp2660Arg
ENST00000679882.1:c.12643T>A	ENSP00000506154.1:p.Trp4215Arg
ENST00000680029.1:c.3655T>A
ENST00000680877.1:c.7978T>A	ENSP00000505724.1:p.Trp2660Arg
ENST00000681923.1:n.2093T>A
ENST00000262189.10:c.13078T>A	ENSP00000262189.6:p.Trp4360Arg
ENST00000355193.6:c.13078T>A	ENSP00000347325.3:p.Trp4360Arg
ENST00000360104.7:c.5759T>A
ENST00000424877.5:c.2929T>A	ENSP00000410411.1:p.Trp977Arg
ENST00000473186.5:n.10960T>A
ENST00000558084.5:c.*10598T>A	ENSP00000453752.1:n.*10598T>A
NM_170606.2:c.13078T>A	NP_733751.2:p.Trp4360Arg
XM_005250025.3:c.13294T>A	XP_005250082.1:p.Trp4432Arg
XM_005250026.2:c.13291T>A	XP_005250083.1:p.Trp4431Arg
XM_005250027.3:c.13291T>A	XP_005250084.1:p.Trp4431Arg
XM_005250028.3:c.13294T>A	XP_005250085.1:p.Trp4432Arg
XM_005250031.3:c.13129T>A	XP_005250088.1:p.Trp4377Arg
XM_006716077.2:c.13291T>A	XP_006716140.1:p.Trp4431Arg
XM_006716078.2:c.13222T>A	XP_006716141.1:p.Trp4408Arg
XM_006716079.2:c.13126T>A	XP_006716142.1:p.Trp4376Arg
XM_011516450.1:c.13246T>A	XP_011514752.1:p.Trp4416Arg
XM_011516451.1:c.13174T>A	XP_011514753.1:p.Trp4392Arg
XM_011516452.1:c.13141T>A	XP_011514754.1:p.Trp4381Arg
XM_011516453.1:c.13057T>A	XP_011514755.1:p.Trp4353Arg
XM_011516454.1:c.12379T>A	XP_011514756.1:p.Trp4127Arg
XM_011516455.1:c.10840T>A	XP_011514757.1:p.Trp3614Arg
XM_011516456.1:c.13246T>A	XP_011514758.1:p.Trp4416Arg
XM_005250025.4:c.13294T>A	XP_005250082.1:p.Trp4432Arg
XM_005250026.3:c.13291T>A	XP_005250083.1:p.Trp4431Arg
XM_005250027.4:c.13291T>A	XP_005250084.1:p.Trp4431Arg
XM_005250028.4:c.13294T>A	XP_005250085.1:p.Trp4432Arg
XM_005250031.4:c.13129T>A	XP_005250088.1:p.Trp4377Arg
XM_006716077.3:c.13291T>A	XP_006716140.1:p.Trp4431Arg
XM_006716078.3:c.13222T>A	XP_006716141.1:p.Trp4408Arg
XM_006716079.3:c.13126T>A	XP_006716142.1:p.Trp4376Arg
XM_011516450.2:c.13246T>A	XP_011514752.1:p.Trp4416Arg
XM_011516451.2:c.13174T>A	XP_011514753.1:p.Trp4392Arg
XM_011516452.2:c.13141T>A	XP_011514754.1:p.Trp4381Arg
XM_011516453.2:c.13057T>A	XP_011514755.1:p.Trp4353Arg
XM_011516454.2:c.12379T>A	XP_011514756.1:p.Trp4127Arg
XM_011516456.2:c.13246T>A	XP_011514758.1:p.Trp4416Arg
XM_017012480.1:c.13294T>A	XP_016867969.1:p.Trp4432Arg
XM_017012481.1:c.13291T>A	XP_016867970.1:p.Trp4431Arg
XM_017012482.1:c.13291T>A	XP_016867971.1:p.Trp4431Arg
XM_017012483.1:c.13291T>A	XP_016867972.1:p.Trp4431Arg
XM_017012484.1:c.13261T>A	XP_016867973.1:p.Trp4421Arg
XM_017012485.1:c.13243T>A	XP_016867974.1:p.Trp4415Arg
XM_017012486.1:c.13219T>A	XP_016867975.1:p.Trp4407Arg
XM_017012487.1:c.13147T>A	XP_016867976.1:p.Trp4383Arg
XM_017012488.1:c.13111T>A	XP_016867977.1:p.Trp4371Arg
XM_017012489.1:c.9964T>A	XP_016867978.1:p.Trp3322Arg
XM_017012490.2:c.9568T>A	XP_016867979.1:p.Trp3190Arg
XM_024446852.1:c.13291T>A	XP_024302620.1:p.Trp4431Arg
XM_024446853.1:c.13219T>A	XP_024302621.1:p.Trp4407Arg
NM_170606.3:c.13078T>A MANE Select	NP_733751.2:p.Trp4360Arg