Canonical Allele Identifier: CA15767376

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49023161T>C , CM000674.2:g.49023161T>C	GRCh38
NC_000012.11:g.49416944T>C , CM000674.1:g.49416944T>C	GRCh37
NC_000012.10:g.47703211T>C	NCBI36
NG_027827.1:g.37164A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16053-286A>G MANE Select	NP_003473.3:n.16053-286A>G
ENST00000301067.12:c.16053-286A>G MANE Select	ENSP00000301067.7:n.16053-286A>G
NM_003482.3:c.16053-286A>G	NP_003473.3:n.16053-286A>G
ENST00000301067.11:c.16053-286A>G	ENSP00000301067.7:n.16053-286A>G
ENST00000526209.1:c.96-286A>G	ENSP00000435714.1:n.96-286A>G
ENST00000526209.2:c.23-286A>G
ENST00000681974.1:n.725-286A>G
ENST00000682693.1:n.1401A>G
ENST00000683543.2:c.16101-286A>G	ENSP00000506726.1:n.16101-286A>G
ENST00000683988.1:c.24-286A>G	ENSP00000506939.1:n.24-286A>G
ENST00000684428.1:c.588-286A>G	ENSP00000507433.1:n.588-286A>G
ENST00000684755.1:n.636-286A>G
ENST00000685024.1:c.1207-286A>G
ENST00000685166.1:c.16062-286A>G	ENSP00000509386.1:n.16062-286A>G
ENST00000688411.1:c.530-286A>G	ENSP00000510146.1:n.530-286A>G
ENST00000691932.1:c.132-364A>G	ENSP00000509037.1:n.132-364A>G
ENST00000692637.1:c.16050-286A>G	ENSP00000509666.1:n.16050-286A>G
XM_005269162.3:c.16053-286A>G	XP_005269219.1:n.16053-286A>G
XM_005269162.4:c.16053-286A>G	XP_005269219.1:n.16053-286A>G
XM_006719614.2:c.16062-286A>G	XP_006719677.1:n.16062-286A>G
XM_006719614.4:c.16062-286A>G	XP_006719677.1:n.16062-286A>G
XM_006719616.2:c.16050-286A>G	XP_006719679.1:n.16050-286A>G
XM_006719616.3:c.16050-286A>G	XP_006719679.1:n.16050-286A>G
XM_011538770.1:c.16110-286A>G	XP_011537072.1:n.16110-286A>G
XM_011538770.2:c.16110-286A>G	XP_011537072.1:n.16110-286A>G
XM_011538771.1:c.16107-286A>G	XP_011537073.1:n.16107-286A>G
XM_011538771.2:c.16107-286A>G	XP_011537073.1:n.16107-286A>G
XM_011538772.1:c.16101-286A>G	XP_011537074.1:n.16101-286A>G
XM_011538772.2:c.16101-286A>G	XP_011537074.1:n.16101-286A>G
XM_011538773.1:c.16098-286A>G	XP_011537075.1:n.16098-286A>G
XM_011538773.2:c.16098-286A>G	XP_011537075.1:n.16098-286A>G
XM_011538774.1:c.16089-286A>G	XP_011537076.1:n.16089-286A>G
XM_011538774.2:c.16089-286A>G	XP_011537076.1:n.16089-286A>G
XM_011538775.1:c.16044-286A>G	XP_011537077.1:n.16044-286A>G
XM_011538776.1:c.16017-286A>G	XP_011537078.1:n.16017-286A>G
XM_011538776.2:c.16017-286A>G	XP_011537078.1:n.16017-286A>G
XR_001748874.1:n.16230-286A>G