Canonical Allele Identifier: CA2034948572

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033556G= , CM000674.2:g.49033556G=	GRCh38
NC_000012.11:g.49427339G= , CM000674.1:g.49427339G=	GRCh37
NC_000012.10:g.47713606G=	NCBI36
NG_027827.1:g.26769C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.11149C= MANE Select	NP_003473.3:p.Gln3717=
ENST00000301067.12:c.11149C= MANE Select	ENSP00000301067.7:p.Gln3717=
NM_003482.3:c.11149C=	NP_003473.3:p.Gln3717=
ENST00000301067.11:c.11149C=	ENSP00000301067.7:p.Gln3717=
ENST00000683543.2:c.11149C=	ENSP00000506726.1:p.Gln3717=
ENST00000685166.1:c.11158C=	ENSP00000509386.1:p.Gln3720=
ENST00000685554.1:c.709C=	ENSP00000508640.1:p.Gln237=
ENST00000687201.1:c.2728C=	ENSP00000510037.1:p.Gln910=
ENST00000692637.1:c.11146C=	ENSP00000509666.1:p.Gln3716=
ENST00000692841.1:c.2628C=	ENSP00000508711.1:n.2628C=
XM_005269162.3:c.11149C=	XP_005269219.1:p.Gln3717=
XM_005269162.4:c.11149C=	XP_005269219.1:p.Gln3717=
XM_006719614.2:c.11158C=	XP_006719677.1:p.Gln3720=
XM_006719614.4:c.11158C=	XP_006719677.1:p.Gln3720=
XM_006719616.2:c.11146C=	XP_006719679.1:p.Gln3716=
XM_006719616.3:c.11146C=	XP_006719679.1:p.Gln3716=
XM_011538770.1:c.11158C=	XP_011537072.1:p.Gln3720=
XM_011538770.2:c.11158C=	XP_011537072.1:p.Gln3720=
XM_011538771.1:c.11155C=	XP_011537073.1:p.Gln3719=
XM_011538771.2:c.11155C=	XP_011537073.1:p.Gln3719=
XM_011538772.1:c.11149C=	XP_011537074.1:p.Gln3717=
XM_011538772.2:c.11149C=	XP_011537074.1:p.Gln3717=
XM_011538773.1:c.11146C=	XP_011537075.1:p.Gln3716=
XM_011538773.2:c.11146C=	XP_011537075.1:p.Gln3716=
XM_011538774.1:c.11137C=	XP_011537076.1:p.Gln3713=
XM_011538774.2:c.11137C=	XP_011537076.1:p.Gln3713=
XM_011538775.1:c.11158C=	XP_011537077.1:p.Gln3720=
XM_011538776.1:c.11065C=	XP_011537078.1:p.Gln3689=
XM_011538776.2:c.11065C=	XP_011537078.1:p.Gln3689=
XR_001748874.1:n.12467C=
XR_944740.1:n.13478C=