Canonical Allele Identifier: CA384681648

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1801096
• ClinVar RCV Id: RCV002462693
• dbSNP Id: rs1942486258
• gnomAD v4: 12-49024654-G-A
• MyVariant Identifiers: chr12:g.49418437G>A (hg19) ; chr12:g.49024654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024654G>A , CM000674.2:g.49024654G>A	GRCh38
NC_000012.11:g.49418437G>A , CM000674.1:g.49418437G>A	GRCh37
NC_000012.10:g.47704704G>A	NCBI36
NG_027827.1:g.35671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.648C>T
ENST00000683543.2:c.15976C>T	ENSP00000506726.1:p.Leu5326Phe
ENST00000683863.1:n.1691C>T
ENST00000684428.1:c.511C>T	ENSP00000507433.1:p.Leu171Phe
ENST00000684755.1:n.511C>T
ENST00000685024.1:c.1130C>T
ENST00000685166.1:c.15985C>T	ENSP00000509386.1:p.Leu5329Phe
ENST00000688411.1:c.453C>T	ENSP00000510146.1:n.453C>T
ENST00000691932.1:c.55C>T	ENSP00000509037.1:p.Leu19Phe
ENST00000692637.1:c.15973C>T	ENSP00000509666.1:p.Leu5325Phe
ENST00000301067.12:c.15976C>T MANE Select	ENSP00000301067.7:p.Leu5326Phe
ENST00000301067.11:c.15976C>T	ENSP00000301067.7:p.Leu5326Phe
NM_003482.3:c.15976C>T	NP_003473.3:p.Leu5326Phe
XM_005269162.3:c.15976C>T	XP_005269219.1:p.Leu5326Phe
XM_006719614.2:c.15985C>T	XP_006719677.1:p.Leu5329Phe
XM_006719616.2:c.15973C>T	XP_006719679.1:p.Leu5325Phe
XM_011538770.1:c.15985C>T	XP_011537072.1:p.Leu5329Phe
XM_011538771.1:c.15982C>T	XP_011537073.1:p.Leu5328Phe
XM_011538772.1:c.15976C>T	XP_011537074.1:p.Leu5326Phe
XM_011538773.1:c.15973C>T	XP_011537075.1:p.Leu5325Phe
XM_011538774.1:c.15964C>T	XP_011537076.1:p.Leu5322Phe
XM_011538775.1:c.15919C>T	XP_011537077.1:p.Leu5307Phe
XM_011538776.1:c.15892C>T	XP_011537078.1:p.Leu5298Phe
XM_005269162.4:c.15976C>T	XP_005269219.1:p.Leu5326Phe
XM_006719614.4:c.15985C>T	XP_006719677.1:p.Leu5329Phe
XM_006719616.3:c.15973C>T	XP_006719679.1:p.Leu5325Phe
XM_011538770.2:c.15985C>T	XP_011537072.1:p.Leu5329Phe
XM_011538771.2:c.15982C>T	XP_011537073.1:p.Leu5328Phe
XM_011538772.2:c.15976C>T	XP_011537074.1:p.Leu5326Phe
XM_011538773.2:c.15973C>T	XP_011537075.1:p.Leu5325Phe
XM_011538774.2:c.15964C>T	XP_011537076.1:p.Leu5322Phe
XM_011538776.2:c.15892C>T	XP_011537078.1:p.Leu5298Phe
XR_001748874.1:n.16153C>T
NM_003482.4:c.15976C>T MANE Select	NP_003473.3:p.Leu5326Phe