Canonical Allele Identifier: CA384726800

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49034066C>T , CM000674.2:g.49034066C>T	GRCh38
NC_000012.11:g.49427849C>T , CM000674.1:g.49427849C>T	GRCh37
NC_000012.10:g.47714116C>T	NCBI36
NG_027827.1:g.26259G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.10740+1G>A MANE Select	NP_003473.3:n.10740+1G>A
ENST00000301067.12:c.10740+1G>A MANE Select	ENSP00000301067.7:n.10740+1G>A
NM_003482.3:c.10740+1G>A	NP_003473.3:n.10740+1G>A
ENST00000301067.11:c.10740+1G>A	ENSP00000301067.7:n.10740+1G>A
ENST00000683543.2:c.10740+1G>A	ENSP00000506726.1:n.10740+1G>A
ENST00000685166.1:c.10749+1G>A	ENSP00000509386.1:n.10749+1G>A
ENST00000685554.1:c.300+1G>A	ENSP00000508640.1:n.300+1G>A
ENST00000687201.1:c.2319+1G>A	ENSP00000510037.1:n.2319+1G>A
ENST00000692637.1:c.10737+1G>A	ENSP00000509666.1:n.10737+1G>A
ENST00000692841.1:c.2219+1G>A	ENSP00000508711.1:n.2219+1G>A
XM_005269162.3:c.10740+1G>A	XP_005269219.1:n.10740+1G>A
XM_005269162.4:c.10740+1G>A	XP_005269219.1:n.10740+1G>A
XM_006719614.2:c.10749+1G>A	XP_006719677.1:n.10749+1G>A
XM_006719614.4:c.10749+1G>A	XP_006719677.1:n.10749+1G>A
XM_006719616.2:c.10737+1G>A	XP_006719679.1:n.10737+1G>A
XM_006719616.3:c.10737+1G>A	XP_006719679.1:n.10737+1G>A
XM_011538770.1:c.10749+1G>A	XP_011537072.1:n.10749+1G>A
XM_011538770.2:c.10749+1G>A	XP_011537072.1:n.10749+1G>A
XM_011538771.1:c.10746+1G>A	XP_011537073.1:n.10746+1G>A
XM_011538771.2:c.10746+1G>A	XP_011537073.1:n.10746+1G>A
XM_011538772.1:c.10740+1G>A	XP_011537074.1:n.10740+1G>A
XM_011538772.2:c.10740+1G>A	XP_011537074.1:n.10740+1G>A
XM_011538773.1:c.10737+1G>A	XP_011537075.1:n.10737+1G>A
XM_011538773.2:c.10737+1G>A	XP_011537075.1:n.10737+1G>A
XM_011538774.1:c.10728+1G>A	XP_011537076.1:n.10728+1G>A
XM_011538774.2:c.10728+1G>A	XP_011537076.1:n.10728+1G>A
XM_011538775.1:c.10749+1G>A	XP_011537077.1:n.10749+1G>A
XM_011538776.1:c.10656+1G>A	XP_011537078.1:n.10656+1G>A
XM_011538776.2:c.10656+1G>A	XP_011537078.1:n.10656+1G>A
XR_001748874.1:n.12058+1G>A
XR_944740.1:n.13069+1G>A