Canonical Allele Identifier: CA370091869

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095493
• MyVariant Identifiers: chr7:g.151845772C>T (hg19) ; chr7:g.152148687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148687C>T , CM000669.2:g.152148687C>T	GRCh38
NC_000007.13:g.151845772C>T , CM000669.1:g.151845772C>T	GRCh37
NC_000007.12:g.151476705C>T	NCBI36
NG_033948.1:g.292319G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1428G>A
ENST00000682116.1:n.2372G>A
ENST00000682283.1:c.13411G>A	ENSP00000507485.1:p.Asp4471Asn
ENST00000682629.1:n.2540G>A
ENST00000683120.1:n.8432G>A
ENST00000683178.1:c.3813G>A
ENST00000683200.1:c.10750G>A	ENSP00000508052.1:p.Asp3584Asn
ENST00000683337.1:n.4870G>A
ENST00000683502.1:c.3885G>A
ENST00000683621.1:n.2006G>A
ENST00000683640.1:n.1956G>A
ENST00000684069.1:c.1657G>A	ENSP00000507650.1:p.Asp553Asn
ENST00000684261.1:c.8137G>A	ENSP00000508097.1:p.Asp2713Asn
ENST00000684649.1:c.3885G>A
ENST00000262189.11:c.13240G>A MANE Select	ENSP00000262189.6:p.Asp4414Asn
ENST00000360104.8:c.9027G>A
ENST00000418061.2:c.3882G>A
ENST00000424877.6:c.3816G>A
ENST00000679393.1:n.7951G>A
ENST00000679560.1:c.8140G>A	ENSP00000505094.1:p.Asp2714Asn
ENST00000679882.1:c.12805G>A	ENSP00000506154.1:p.Asp4269Asn
ENST00000680029.1:c.3817G>A
ENST00000680877.1:c.8140G>A	ENSP00000505724.1:p.Asp2714Asn
ENST00000681923.1:n.2255G>A
ENST00000262189.10:c.13240G>A	ENSP00000262189.6:p.Asp4414Asn
ENST00000355193.6:c.13240G>A	ENSP00000347325.3:p.Asp4414Asn
ENST00000360104.7:c.5921G>A
ENST00000424877.5:c.3091G>A	ENSP00000410411.1:p.Asp1031Asn
ENST00000473186.5:n.11122G>A
ENST00000558084.5:c.*10760G>A	ENSP00000453752.1:n.*10760G>A
NM_170606.2:c.13240G>A	NP_733751.2:p.Asp4414Asn
XM_005250025.3:c.13456G>A	XP_005250082.1:p.Asp4486Asn
XM_005250026.2:c.13453G>A	XP_005250083.1:p.Asp4485Asn
XM_005250027.3:c.13453G>A	XP_005250084.1:p.Asp4485Asn
XM_005250028.3:c.13456G>A	XP_005250085.1:p.Asp4486Asn
XM_005250031.3:c.13291G>A	XP_005250088.1:p.Asp4431Asn
XM_006716077.2:c.13453G>A	XP_006716140.1:p.Asp4485Asn
XM_006716078.2:c.13384G>A	XP_006716141.1:p.Asp4462Asn
XM_006716079.2:c.13288G>A	XP_006716142.1:p.Asp4430Asn
XM_011516450.1:c.13408G>A	XP_011514752.1:p.Asp4470Asn
XM_011516451.1:c.13336G>A	XP_011514753.1:p.Asp4446Asn
XM_011516452.1:c.13303G>A	XP_011514754.1:p.Asp4435Asn
XM_011516453.1:c.13219G>A	XP_011514755.1:p.Asp4407Asn
XM_011516454.1:c.12541G>A	XP_011514756.1:p.Asp4181Asn
XM_011516455.1:c.11002G>A	XP_011514757.1:p.Asp3668Asn
XM_011516456.1:c.13408G>A	XP_011514758.1:p.Asp4470Asn
XM_005250025.4:c.13456G>A	XP_005250082.1:p.Asp4486Asn
XM_005250026.3:c.13453G>A	XP_005250083.1:p.Asp4485Asn
XM_005250027.4:c.13453G>A	XP_005250084.1:p.Asp4485Asn
XM_005250028.4:c.13456G>A	XP_005250085.1:p.Asp4486Asn
XM_005250031.4:c.13291G>A	XP_005250088.1:p.Asp4431Asn
XM_006716077.3:c.13453G>A	XP_006716140.1:p.Asp4485Asn
XM_006716078.3:c.13384G>A	XP_006716141.1:p.Asp4462Asn
XM_006716079.3:c.13288G>A	XP_006716142.1:p.Asp4430Asn
XM_011516450.2:c.13408G>A	XP_011514752.1:p.Asp4470Asn
XM_011516451.2:c.13336G>A	XP_011514753.1:p.Asp4446Asn
XM_011516452.2:c.13303G>A	XP_011514754.1:p.Asp4435Asn
XM_011516453.2:c.13219G>A	XP_011514755.1:p.Asp4407Asn
XM_011516454.2:c.12541G>A	XP_011514756.1:p.Asp4181Asn
XM_011516456.2:c.13408G>A	XP_011514758.1:p.Asp4470Asn
XM_017012480.1:c.13456G>A	XP_016867969.1:p.Asp4486Asn
XM_017012481.1:c.13453G>A	XP_016867970.1:p.Asp4485Asn
XM_017012482.1:c.13453G>A	XP_016867971.1:p.Asp4485Asn
XM_017012483.1:c.13453G>A	XP_016867972.1:p.Asp4485Asn
XM_017012484.1:c.13423G>A	XP_016867973.1:p.Asp4475Asn
XM_017012485.1:c.13405G>A	XP_016867974.1:p.Asp4469Asn
XM_017012486.1:c.13381G>A	XP_016867975.1:p.Asp4461Asn
XM_017012487.1:c.13309G>A	XP_016867976.1:p.Asp4437Asn
XM_017012488.1:c.13273G>A	XP_016867977.1:p.Asp4425Asn
XM_017012489.1:c.10126G>A	XP_016867978.1:p.Asp3376Asn
XM_017012490.2:c.9730G>A	XP_016867979.1:p.Asp3244Asn
XM_024446852.1:c.13453G>A	XP_024302620.1:p.Asp4485Asn
XM_024446853.1:c.13381G>A	XP_024302621.1:p.Asp4461Asn
NM_170606.3:c.13240G>A MANE Select	NP_733751.2:p.Asp4414Asn