Canonical Allele Identifier: CA382824774

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 431895
• ClinVar RCV Id: RCV000498743 ; RCV001007914
• dbSNP Id: rs1555038090
• COSMIC: COSM1351612 ; COSM1351613
• MyVariant Identifiers: chr11:g.118348807C>T (hg19) ; chr11:g.118478092C>T (hg38)
• PubMed: PMID:23934111

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118478092C>T , CM000673.2:g.118478092C>T	GRCh38
NC_000011.9:g.118348807C>T , CM000673.1:g.118348807C>T	GRCh37
NC_000011.8:g.117854017C>T	NCBI36
NG_027813.1:g.46603C>T , LRG_613:g.46603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3559C>T	ENSP00000432391.3:p.Arg1187Trp
ENST00000710560.1:c.3559C>T	ENSP00000518343.1:p.Arg1187Trp
ENST00000527869.7:c.1042C>T	ENSP00000432652.3:p.Arg348Trp
ENST00000533790.3:c.943C>T	ENSP00000436700.3:p.Arg315Trp
ENST00000649690.2:c.1267C>T	ENSP00000497372.2:p.Arg423Trp
ENST00000685719.1:c.441C>T
ENST00000691053.1:c.3460C>T	ENSP00000509168.1:p.Arg1154Trp
ENST00000389506.10:c.3460C>T	ENSP00000374157.5:p.Arg1154Trp
ENST00000533790.2:c.712C>T	ENSP00000436700.2:p.Arg238Trp
ENST00000534358.8:c.3460C>T MANE Select	ENSP00000436786.2:p.Arg1154Trp
ENST00000648261.1:c.2230C>T	ENSP00000498126.1:p.Arg744Trp
ENST00000649699.1:c.3460C>T	ENSP00000496927.1:p.Arg1154Trp
ENST00000389506.9:c.3460C>T	ENSP00000374157.5:p.Arg1154Trp
ENST00000531904.6:c.3559C>T	ENSP00000432391.2:p.Arg1187Trp
ENST00000533790.1:c.694C>T	ENSP00000436700.1:p.Arg232Trp
ENST00000534358.5:c.3460C>T	ENSP00000436786.1:p.Arg1154Trp
NM_001197104.1:c.3460C>T , LRG_613t1:c.3460C>T	NP_001184033.1:p.Arg1154Trp
NM_005933.3:c.3460C>T	NP_005924.2:p.Arg1154Trp
XM_006718839.2:c.943C>T	XP_006718902.2:p.Arg315Trp
XM_011542829.1:c.3559C>T	XP_011541131.1:p.Arg1187Trp
XM_011542830.1:c.3559C>T	XP_011541132.1:p.Arg1187Trp
XM_011542831.1:c.3559C>T	XP_011541133.1:p.Arg1187Trp
XM_011542832.1:c.1366C>T	XP_011541134.1:p.Arg456Trp
XM_011542833.1:c.1042C>T	XP_011541135.1:p.Arg348Trp
XM_006718839.3:c.943C>T	XP_006718902.2:p.Arg315Trp
XM_011542829.2:c.3559C>T	XP_011541131.1:p.Arg1187Trp
XM_011542830.2:c.3559C>T	XP_011541132.1:p.Arg1187Trp
XM_011542831.2:c.3559C>T	XP_011541133.1:p.Arg1187Trp
XM_011542833.2:c.1042C>T	XP_011541135.1:p.Arg348Trp
NM_001197104.2:c.3460C>T MANE Select	NP_001184033.1:p.Arg1154Trp
NM_005933.4:c.3460C>T	NP_005924.2:p.Arg1154Trp