Canonical Allele Identifier: CA10603305

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 280132
• ClinVar RCV Id: RCV000376655 ; RCV000505249 ; RCV001220983 ; RCV004535247
• dbSNP Id: rs886041404
• COSMIC: COSM215535 ; COSM2006665
• MyVariant Identifiers: chr12:g.49420606C>T (hg19) ; chr12:g.49026823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026823C>T , CM000674.2:g.49026823C>T	GRCh38
NC_000012.11:g.49420606C>T , CM000674.1:g.49420606C>T	GRCh37
NC_000012.10:g.47706873C>T	NCBI36
NG_027827.1:g.33502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.15143G>A	ENSP00000506726.1:p.Arg5048His
ENST00000685024.1:c.268G>A
ENST00000685166.1:c.15152G>A	ENSP00000509386.1:p.Arg5051His
ENST00000688411.1:c.261+980G>A	ENSP00000510146.1:n.261+980G>A
ENST00000691463.1:c.529G>A	ENSP00000510624.1:n.529G>A
ENST00000692637.1:c.15140G>A	ENSP00000509666.1:p.Arg5047His
ENST00000301067.12:c.15143G>A MANE Select	ENSP00000301067.7:p.Arg5048His
ENST00000301067.11:c.15143G>A	ENSP00000301067.7:p.Arg5048His
NM_003482.3:c.15143G>A	NP_003473.3:p.Arg5048His
XM_005269162.3:c.15143G>A	XP_005269219.1:p.Arg5048His
XM_006719614.2:c.15152G>A	XP_006719677.1:p.Arg5051His
XM_006719616.2:c.15140G>A	XP_006719679.1:p.Arg5047His
XM_011538770.1:c.15152G>A	XP_011537072.1:p.Arg5051His
XM_011538771.1:c.15149G>A	XP_011537073.1:p.Arg5050His
XM_011538772.1:c.15143G>A	XP_011537074.1:p.Arg5048His
XM_011538773.1:c.15140G>A	XP_011537075.1:p.Arg5047His
XM_011538774.1:c.15131G>A	XP_011537076.1:p.Arg5044His
XM_011538775.1:c.15086G>A	XP_011537077.1:p.Arg5029His
XM_011538776.1:c.15059G>A	XP_011537078.1:p.Arg5020His
XR_944740.1:n.16972+980G>A
XM_005269162.4:c.15143G>A	XP_005269219.1:p.Arg5048His
XM_006719614.4:c.15152G>A	XP_006719677.1:p.Arg5051His
XM_006719616.3:c.15140G>A	XP_006719679.1:p.Arg5047His
XM_011538770.2:c.15152G>A	XP_011537072.1:p.Arg5051His
XM_011538771.2:c.15149G>A	XP_011537073.1:p.Arg5050His
XM_011538772.2:c.15143G>A	XP_011537074.1:p.Arg5048His
XM_011538773.2:c.15140G>A	XP_011537075.1:p.Arg5047His
XM_011538774.2:c.15131G>A	XP_011537076.1:p.Arg5044His
XM_011538776.2:c.15059G>A	XP_011537078.1:p.Arg5020His
XR_001748874.1:n.15961+980G>A
NM_003482.4:c.15143G>A MANE Select	NP_003473.3:p.Arg5048His