Canonical Allele Identifier: CA271643

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158769
• ClinVar RCV Id: RCV000146213 ; RCV004019769
• dbSNP Id: rs587783717
• MyVariant Identifiers: chr12:g.49440387C>T (hg19) ; chr12:g.49046604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49046604C>T , CM000674.2:g.49046604C>T	GRCh38
NC_000012.11:g.49440387C>T , CM000674.1:g.49440387C>T	GRCh37
NC_000012.10:g.47726654C>T	NCBI36
NG_027827.1:g.13721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.4418+5G>A	ENSP00000506726.1:n.4418+5G>A
ENST00000685166.1:c.4418+5G>A	ENSP00000509386.1:n.4418+5G>A
ENST00000688095.1:c.398+5G>A	ENSP00000510007.1:n.398+5G>A
ENST00000692637.1:c.4415+5G>A	ENSP00000509666.1:n.4415+5G>A
ENST00000301067.12:c.4418+5G>A MANE Select	ENSP00000301067.7:n.4418+5G>A
ENST00000301067.11:c.4418+5G>A	ENSP00000301067.7:n.4418+5G>A
NM_003482.3:c.4418+5G>A	NP_003473.3:n.4418+5G>A
XM_005269162.3:c.4418+5G>A	XP_005269219.1:n.4418+5G>A
XM_006719614.2:c.4418+5G>A	XP_006719677.1:n.4418+5G>A
XM_006719616.2:c.4415+5G>A	XP_006719679.1:n.4415+5G>A
XM_011538770.1:c.4418+5G>A	XP_011537072.1:n.4418+5G>A
XM_011538771.1:c.4415+5G>A	XP_011537073.1:n.4415+5G>A
XM_011538772.1:c.4418+5G>A	XP_011537074.1:n.4418+5G>A
XM_011538773.1:c.4415+5G>A	XP_011537075.1:n.4415+5G>A
XM_011538774.1:c.4418+5G>A	XP_011537076.1:n.4418+5G>A
XM_011538775.1:c.4418+5G>A	XP_011537077.1:n.4418+5G>A
XM_011538776.1:c.4418+5G>A	XP_011537078.1:n.4418+5G>A
XR_944740.1:n.6738+5G>A
XM_005269162.4:c.4418+5G>A	XP_005269219.1:n.4418+5G>A
XM_006719614.4:c.4418+5G>A	XP_006719677.1:n.4418+5G>A
XM_006719616.3:c.4415+5G>A	XP_006719679.1:n.4415+5G>A
XM_011538770.2:c.4418+5G>A	XP_011537072.1:n.4418+5G>A
XM_011538771.2:c.4415+5G>A	XP_011537073.1:n.4415+5G>A
XM_011538772.2:c.4418+5G>A	XP_011537074.1:n.4418+5G>A
XM_011538773.2:c.4415+5G>A	XP_011537075.1:n.4415+5G>A
XM_011538774.2:c.4418+5G>A	XP_011537076.1:n.4418+5G>A
XM_011538776.2:c.4418+5G>A	XP_011537078.1:n.4418+5G>A
XR_001748874.1:n.5727+5G>A
NM_003482.4:c.4418+5G>A MANE Select	NP_003473.3:n.4418+5G>A