Canonical Allele Identifier: CA384691758

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49027185A>C , CM000674.2:g.49027185A>C	GRCh38
NC_000012.11:g.49420968A>C , CM000674.1:g.49420968A>C	GRCh37
NC_000012.10:g.47707235A>C	NCBI36
NG_027827.1:g.33140T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14781T>G MANE Select	NP_003473.3:p.Ser4927Arg
ENST00000301067.12:c.14781T>G MANE Select	ENSP00000301067.7:p.Ser4927Arg
NM_003482.3:c.14781T>G	NP_003473.3:p.Ser4927Arg
ENST00000301067.11:c.14781T>G	ENSP00000301067.7:p.Ser4927Arg
ENST00000683543.2:c.14781T>G	ENSP00000506726.1:p.Ser4927Arg
ENST00000685166.1:c.14790T>G	ENSP00000509386.1:p.Ser4930Arg
ENST00000688411.1:c.261+618T>G	ENSP00000510146.1:n.261+618T>G
ENST00000691463.1:c.262-95T>G	ENSP00000510624.1:n.262-95T>G
ENST00000692637.1:c.14778T>G	ENSP00000509666.1:p.Ser4926Arg
XM_005269162.3:c.14781T>G	XP_005269219.1:p.Ser4927Arg
XM_005269162.4:c.14781T>G	XP_005269219.1:p.Ser4927Arg
XM_006719614.2:c.14790T>G	XP_006719677.1:p.Ser4930Arg
XM_006719614.4:c.14790T>G	XP_006719677.1:p.Ser4930Arg
XM_006719616.2:c.14778T>G	XP_006719679.1:p.Ser4926Arg
XM_006719616.3:c.14778T>G	XP_006719679.1:p.Ser4926Arg
XM_011538770.1:c.14790T>G	XP_011537072.1:p.Ser4930Arg
XM_011538770.2:c.14790T>G	XP_011537072.1:p.Ser4930Arg
XM_011538771.1:c.14787T>G	XP_011537073.1:p.Ser4929Arg
XM_011538771.2:c.14787T>G	XP_011537073.1:p.Ser4929Arg
XM_011538772.1:c.14781T>G	XP_011537074.1:p.Ser4927Arg
XM_011538772.2:c.14781T>G	XP_011537074.1:p.Ser4927Arg
XM_011538773.1:c.14778T>G	XP_011537075.1:p.Ser4926Arg
XM_011538773.2:c.14778T>G	XP_011537075.1:p.Ser4926Arg
XM_011538774.1:c.14769T>G	XP_011537076.1:p.Ser4923Arg
XM_011538774.2:c.14769T>G	XP_011537076.1:p.Ser4923Arg
XM_011538775.1:c.14724T>G	XP_011537077.1:p.Ser4908Arg
XM_011538776.1:c.14697T>G	XP_011537078.1:p.Ser4899Arg
XM_011538776.2:c.14697T>G	XP_011537078.1:p.Ser4899Arg
XR_001748874.1:n.15961+618T>G
XR_944740.1:n.16972+618T>G