Canonical Allele Identifier: CA384703245

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1410170
• ClinVar RCV Id: RCV001916316 ; RCV002484456
• dbSNP Id: rs1238014538
• gnomAD v3: 12-49030919-C-T
• gnomAD v4: 12-49030919-C-T
• MyVariant Identifiers: chr12:g.49424702C>T (hg19) ; chr12:g.49030919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030919C>T , CM000674.2:g.49030919C>T	GRCh38
NC_000012.11:g.49424702C>T , CM000674.1:g.49424702C>T	GRCh37
NC_000012.10:g.47710969C>T	NCBI36
NG_027827.1:g.29406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.345G>A
ENST00000683543.2:c.13645G>A	ENSP00000506726.1:p.Glu4549Lys
ENST00000685166.1:c.13654G>A	ENSP00000509386.1:p.Glu4552Lys
ENST00000685982.1:c.139-151G>A	ENSP00000508613.1:n.139-151G>A
ENST00000691986.1:c.138+256G>A	ENSP00000509196.1:n.138+256G>A
ENST00000692637.1:c.13642G>A	ENSP00000509666.1:p.Glu4548Lys
ENST00000692973.1:c.246G>A	ENSP00000508893.1:n.246G>A
ENST00000301067.12:c.13645G>A MANE Select	ENSP00000301067.7:p.Glu4549Lys
ENST00000301067.11:c.13645G>A	ENSP00000301067.7:p.Glu4549Lys
ENST00000552391.1:n.345G>A
NM_003482.3:c.13645G>A	NP_003473.3:p.Glu4549Lys
XM_005269162.3:c.13645G>A	XP_005269219.1:p.Glu4549Lys
XM_006719614.2:c.13654G>A	XP_006719677.1:p.Glu4552Lys
XM_006719616.2:c.13642G>A	XP_006719679.1:p.Glu4548Lys
XM_011538770.1:c.13654G>A	XP_011537072.1:p.Glu4552Lys
XM_011538771.1:c.13651G>A	XP_011537073.1:p.Glu4551Lys
XM_011538772.1:c.13645G>A	XP_011537074.1:p.Glu4549Lys
XM_011538773.1:c.13642G>A	XP_011537075.1:p.Glu4548Lys
XM_011538774.1:c.13633G>A	XP_011537076.1:p.Glu4545Lys
XM_011538775.1:c.13654G>A	XP_011537077.1:p.Glu4552Lys
XM_011538776.1:c.13561G>A	XP_011537078.1:p.Glu4521Lys
XR_944740.1:n.15974G>A
XM_005269162.4:c.13645G>A	XP_005269219.1:p.Glu4549Lys
XM_006719614.4:c.13654G>A	XP_006719677.1:p.Glu4552Lys
XM_006719616.3:c.13642G>A	XP_006719679.1:p.Glu4548Lys
XM_011538770.2:c.13654G>A	XP_011537072.1:p.Glu4552Lys
XM_011538771.2:c.13651G>A	XP_011537073.1:p.Glu4551Lys
XM_011538772.2:c.13645G>A	XP_011537074.1:p.Glu4549Lys
XM_011538773.2:c.13642G>A	XP_011537075.1:p.Glu4548Lys
XM_011538774.2:c.13633G>A	XP_011537076.1:p.Glu4545Lys
XM_011538776.2:c.13561G>A	XP_011537078.1:p.Glu4521Lys
XR_001748874.1:n.14963G>A
NM_003482.4:c.13645G>A MANE Select	NP_003473.3:p.Glu4549Lys