Canonical Allele Identifier: CA6546121

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031857G>C , CM000674.2:g.49031857G>C	GRCh38
NC_000012.11:g.49425640G>C , CM000674.1:g.49425640G>C	GRCh37
NC_000012.10:g.47711907G>C	NCBI36
NG_027827.1:g.28468C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12848C>G MANE Select	NP_003473.3:p.Pro4283Arg
ENST00000301067.12:c.12848C>G MANE Select	ENSP00000301067.7:p.Pro4283Arg
NM_003482.3:c.12848C>G	NP_003473.3:p.Pro4283Arg
ENST00000301067.11:c.12848C>G	ENSP00000301067.7:p.Pro4283Arg
ENST00000683543.2:c.12848C>G	ENSP00000506726.1:p.Pro4283Arg
ENST00000685166.1:c.12857C>G	ENSP00000509386.1:p.Pro4286Arg
ENST00000685554.1:c.1753-545C>G	ENSP00000508640.1:n.1753-545C>G
ENST00000692637.1:c.12845C>G	ENSP00000509666.1:p.Pro4282Arg
ENST00000692841.1:c.4327C>G	ENSP00000508711.1:n.4327C>G
XM_005269162.3:c.12848C>G	XP_005269219.1:p.Pro4283Arg
XM_005269162.4:c.12848C>G	XP_005269219.1:p.Pro4283Arg
XM_006719614.2:c.12857C>G	XP_006719677.1:p.Pro4286Arg
XM_006719614.4:c.12857C>G	XP_006719677.1:p.Pro4286Arg
XM_006719616.2:c.12845C>G	XP_006719679.1:p.Pro4282Arg
XM_006719616.3:c.12845C>G	XP_006719679.1:p.Pro4282Arg
XM_011538770.1:c.12857C>G	XP_011537072.1:p.Pro4286Arg
XM_011538770.2:c.12857C>G	XP_011537072.1:p.Pro4286Arg
XM_011538771.1:c.12854C>G	XP_011537073.1:p.Pro4285Arg
XM_011538771.2:c.12854C>G	XP_011537073.1:p.Pro4285Arg
XM_011538772.1:c.12848C>G	XP_011537074.1:p.Pro4283Arg
XM_011538772.2:c.12848C>G	XP_011537074.1:p.Pro4283Arg
XM_011538773.1:c.12845C>G	XP_011537075.1:p.Pro4282Arg
XM_011538773.2:c.12845C>G	XP_011537075.1:p.Pro4282Arg
XM_011538774.1:c.12836C>G	XP_011537076.1:p.Pro4279Arg
XM_011538774.2:c.12836C>G	XP_011537076.1:p.Pro4279Arg
XM_011538775.1:c.12857C>G	XP_011537077.1:p.Pro4286Arg
XM_011538776.1:c.12764C>G	XP_011537078.1:p.Pro4255Arg
XM_011538776.2:c.12764C>G	XP_011537078.1:p.Pro4255Arg
XR_001748874.1:n.14166C>G
XR_944740.1:n.15177C>G