Canonical Allele Identifier: CA384712415

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032446T>G , CM000674.2:g.49032446T>G	GRCh38
NC_000012.11:g.49426229T>G , CM000674.1:g.49426229T>G	GRCh37
NC_000012.10:g.47712496T>G	NCBI36
NG_027827.1:g.27879A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12259A>C MANE Select	NP_003473.3:p.Ser4087Arg
ENST00000301067.12:c.12259A>C MANE Select	ENSP00000301067.7:p.Ser4087Arg
NM_003482.3:c.12259A>C	NP_003473.3:p.Ser4087Arg
ENST00000301067.11:c.12259A>C	ENSP00000301067.7:p.Ser4087Arg
ENST00000683543.2:c.12259A>C	ENSP00000506726.1:p.Ser4087Arg
ENST00000685166.1:c.12268A>C	ENSP00000509386.1:p.Ser4090Arg
ENST00000685554.1:c.1752+67A>C	ENSP00000508640.1:n.1752+67A>C
ENST00000692637.1:c.12256A>C	ENSP00000509666.1:p.Ser4086Arg
ENST00000692841.1:c.3738A>C	ENSP00000508711.1:n.3738A>C
XM_005269162.3:c.12259A>C	XP_005269219.1:p.Ser4087Arg
XM_005269162.4:c.12259A>C	XP_005269219.1:p.Ser4087Arg
XM_006719614.2:c.12268A>C	XP_006719677.1:p.Ser4090Arg
XM_006719614.4:c.12268A>C	XP_006719677.1:p.Ser4090Arg
XM_006719616.2:c.12256A>C	XP_006719679.1:p.Ser4086Arg
XM_006719616.3:c.12256A>C	XP_006719679.1:p.Ser4086Arg
XM_011538770.1:c.12268A>C	XP_011537072.1:p.Ser4090Arg
XM_011538770.2:c.12268A>C	XP_011537072.1:p.Ser4090Arg
XM_011538771.1:c.12265A>C	XP_011537073.1:p.Ser4089Arg
XM_011538771.2:c.12265A>C	XP_011537073.1:p.Ser4089Arg
XM_011538772.1:c.12259A>C	XP_011537074.1:p.Ser4087Arg
XM_011538772.2:c.12259A>C	XP_011537074.1:p.Ser4087Arg
XM_011538773.1:c.12256A>C	XP_011537075.1:p.Ser4086Arg
XM_011538773.2:c.12256A>C	XP_011537075.1:p.Ser4086Arg
XM_011538774.1:c.12247A>C	XP_011537076.1:p.Ser4083Arg
XM_011538774.2:c.12247A>C	XP_011537076.1:p.Ser4083Arg
XM_011538775.1:c.12268A>C	XP_011537077.1:p.Ser4090Arg
XM_011538776.1:c.12175A>C	XP_011537078.1:p.Ser4059Arg
XM_011538776.2:c.12175A>C	XP_011537078.1:p.Ser4059Arg
XR_001748874.1:n.13577A>C
XR_944740.1:n.14588A>C