Canonical Allele Identifier: CA6547583

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49043956C>T , CM000674.2:g.49043956C>T	GRCh38
NC_000012.11:g.49437739C>T , CM000674.1:g.49437739C>T	GRCh37
NC_000012.10:g.47724006C>T	NCBI36
NG_027827.1:g.16369G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.5231G>A MANE Select	NP_003473.3:p.Ser1744Asn
ENST00000301067.12:c.5231G>A MANE Select	ENSP00000301067.7:p.Ser1744Asn
NM_003482.3:c.5231G>A	NP_003473.3:p.Ser1744Asn
ENST00000301067.11:c.5231G>A	ENSP00000301067.7:p.Ser1744Asn
ENST00000650290.1:c.277G>A
ENST00000650290.2:c.43G>A
ENST00000683543.2:c.5231G>A	ENSP00000506726.1:p.Ser1744Asn
ENST00000685166.1:c.5240G>A	ENSP00000509386.1:p.Ser1747Asn
ENST00000688095.1:c.1180G>A	ENSP00000510007.1:n.1180G>A
ENST00000692637.1:c.5228G>A	ENSP00000509666.1:p.Ser1743Asn
XM_005269162.3:c.5231G>A	XP_005269219.1:p.Ser1744Asn
XM_005269162.4:c.5231G>A	XP_005269219.1:p.Ser1744Asn
XM_006719614.2:c.5240G>A	XP_006719677.1:p.Ser1747Asn
XM_006719614.4:c.5240G>A	XP_006719677.1:p.Ser1747Asn
XM_006719616.2:c.5228G>A	XP_006719679.1:p.Ser1743Asn
XM_006719616.3:c.5228G>A	XP_006719679.1:p.Ser1743Asn
XM_011538770.1:c.5240G>A	XP_011537072.1:p.Ser1747Asn
XM_011538770.2:c.5240G>A	XP_011537072.1:p.Ser1747Asn
XM_011538771.1:c.5237G>A	XP_011537073.1:p.Ser1746Asn
XM_011538771.2:c.5237G>A	XP_011537073.1:p.Ser1746Asn
XM_011538772.1:c.5231G>A	XP_011537074.1:p.Ser1744Asn
XM_011538772.2:c.5231G>A	XP_011537074.1:p.Ser1744Asn
XM_011538773.1:c.5228G>A	XP_011537075.1:p.Ser1743Asn
XM_011538773.2:c.5228G>A	XP_011537075.1:p.Ser1743Asn
XM_011538774.1:c.5240G>A	XP_011537076.1:p.Ser1747Asn
XM_011538774.2:c.5240G>A	XP_011537076.1:p.Ser1747Asn
XM_011538775.1:c.5240G>A	XP_011537077.1:p.Ser1747Asn
XM_011538776.1:c.5240G>A	XP_011537078.1:p.Ser1747Asn
XM_011538776.2:c.5240G>A	XP_011537078.1:p.Ser1747Asn
XR_001748874.1:n.6549G>A
XR_944740.1:n.7560G>A