Canonical Allele Identifier: CA6545415

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022731C>T , CM000674.2:g.49022731C>T	GRCh38
NC_000012.11:g.49416514C>T , CM000674.1:g.49416514C>T	GRCh37
NC_000012.10:g.47702781C>T	NCBI36
NG_027827.1:g.37594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.167G>A
ENST00000681974.1:n.869G>A
ENST00000682693.1:n.1831G>A
ENST00000682886.1:n.367G>A
ENST00000683543.2:c.16245G>A	ENSP00000506726.1:p.Val5415=
ENST00000683988.1:c.168G>A	ENSP00000506939.1:p.Val56=
ENST00000684428.1:c.732G>A	ENSP00000507433.1:p.Val244=
ENST00000684755.1:n.780G>A
ENST00000685024.1:c.1351G>A
ENST00000685166.1:c.16206G>A	ENSP00000509386.1:p.Val5402=
ENST00000688411.1:c.674G>A	ENSP00000510146.1:n.674G>A
ENST00000691932.1:c.198G>A	ENSP00000509037.1:p.Val66=
ENST00000692637.1:c.16194G>A	ENSP00000509666.1:p.Val5398=
ENST00000301067.12:c.16197G>A MANE Select	ENSP00000301067.7:p.Val5399=
ENST00000301067.11:c.16197G>A	ENSP00000301067.7:p.Val5399=
ENST00000526209.1:c.240G>A	ENSP00000435714.1:p.Val80=
NM_003482.3:c.16197G>A	NP_003473.3:p.Val5399=
XM_005269162.3:c.16197G>A	XP_005269219.1:p.Val5399=
XM_006719614.2:c.16206G>A	XP_006719677.1:p.Val5402=
XM_006719616.2:c.16194G>A	XP_006719679.1:p.Val5398=
XM_011538770.1:c.16254G>A	XP_011537072.1:p.Val5418=
XM_011538771.1:c.16251G>A	XP_011537073.1:p.Val5417=
XM_011538772.1:c.16245G>A	XP_011537074.1:p.Val5415=
XM_011538773.1:c.16242G>A	XP_011537075.1:p.Val5414=
XM_011538774.1:c.16233G>A	XP_011537076.1:p.Val5411=
XM_011538775.1:c.16188G>A	XP_011537077.1:p.Val5396=
XM_011538776.1:c.16161G>A	XP_011537078.1:p.Val5387=
XM_005269162.4:c.16197G>A	XP_005269219.1:p.Val5399=
XM_006719614.4:c.16206G>A	XP_006719677.1:p.Val5402=
XM_006719616.3:c.16194G>A	XP_006719679.1:p.Val5398=
XM_011538770.2:c.16254G>A	XP_011537072.1:p.Val5418=
XM_011538771.2:c.16251G>A	XP_011537073.1:p.Val5417=
XM_011538772.2:c.16245G>A	XP_011537074.1:p.Val5415=
XM_011538773.2:c.16242G>A	XP_011537075.1:p.Val5414=
XM_011538774.2:c.16233G>A	XP_011537076.1:p.Val5411=
XM_011538776.2:c.16161G>A	XP_011537078.1:p.Val5387=
XR_001748874.1:n.16374G>A
NM_003482.4:c.16197G>A MANE Select	NP_003473.3:p.Val5399=