Canonical Allele Identifier: CA271604

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158738
• ClinVar RCV Id: RCV000146179
• dbSNP Id: rs587783697
• gnomAD v4: 12-49024940-C-T
• MyVariant Identifiers: chr12:g.49418723C>T (hg19) ; chr12:g.49024940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024940C>T , CM000674.2:g.49024940C>T	GRCh38
NC_000012.11:g.49418723C>T , CM000674.1:g.49418723C>T	GRCh37
NC_000012.10:g.47704990C>T	NCBI36
NG_027827.1:g.35385G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.463G>A
ENST00000683543.2:c.15791G>A	ENSP00000506726.1:p.Trp5264Ter
ENST00000683863.1:n.1506G>A
ENST00000684428.1:c.326G>A	ENSP00000507433.1:p.Trp109Ter
ENST00000684755.1:n.326G>A
ENST00000685024.1:c.916G>A
ENST00000685166.1:c.15800G>A	ENSP00000509386.1:p.Trp5267Ter
ENST00000688411.1:c.268G>A	ENSP00000510146.1:p.Gly90Arg
ENST00000691463.1:c.1177G>A	ENSP00000510624.1:n.1177G>A
ENST00000692637.1:c.15788G>A	ENSP00000509666.1:p.Trp5263Ter
ENST00000301067.12:c.15791G>A MANE Select	ENSP00000301067.7:p.Trp5264Ter
ENST00000301067.11:c.15791G>A	ENSP00000301067.7:p.Trp5264Ter
NM_003482.3:c.15791G>A	NP_003473.3:p.Trp5264Ter
XM_005269162.3:c.15791G>A	XP_005269219.1:p.Trp5264Ter
XM_006719614.2:c.15800G>A	XP_006719677.1:p.Trp5267Ter
XM_006719616.2:c.15788G>A	XP_006719679.1:p.Trp5263Ter
XM_011538770.1:c.15800G>A	XP_011537072.1:p.Trp5267Ter
XM_011538771.1:c.15797G>A	XP_011537073.1:p.Trp5266Ter
XM_011538772.1:c.15791G>A	XP_011537074.1:p.Trp5264Ter
XM_011538773.1:c.15788G>A	XP_011537075.1:p.Trp5263Ter
XM_011538774.1:c.15779G>A	XP_011537076.1:p.Trp5260Ter
XM_011538775.1:c.15734G>A	XP_011537077.1:p.Trp5245Ter
XM_011538776.1:c.15707G>A	XP_011537078.1:p.Trp5236Ter
XR_944740.1:n.16979G>A
XM_005269162.4:c.15791G>A	XP_005269219.1:p.Trp5264Ter
XM_006719614.4:c.15800G>A	XP_006719677.1:p.Trp5267Ter
XM_006719616.3:c.15788G>A	XP_006719679.1:p.Trp5263Ter
XM_011538770.2:c.15800G>A	XP_011537072.1:p.Trp5267Ter
XM_011538771.2:c.15797G>A	XP_011537073.1:p.Trp5266Ter
XM_011538772.2:c.15791G>A	XP_011537074.1:p.Trp5264Ter
XM_011538773.2:c.15788G>A	XP_011537075.1:p.Trp5263Ter
XM_011538774.2:c.15779G>A	XP_011537076.1:p.Trp5260Ter
XM_011538776.2:c.15707G>A	XP_011537078.1:p.Trp5236Ter
XR_001748874.1:n.15968G>A
NM_003482.4:c.15791G>A MANE Select	NP_003473.3:p.Trp5264Ter