Canonical Allele Identifier: CA6546318

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033304T>G , CM000674.2:g.49033304T>G	GRCh38
NC_000012.11:g.49427087T>G , CM000674.1:g.49427087T>G	GRCh37
NC_000012.10:g.47713354T>G	NCBI36
NG_027827.1:g.27021A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.11401A>C MANE Select	NP_003473.3:p.Met3801Leu
ENST00000301067.12:c.11401A>C MANE Select	ENSP00000301067.7:p.Met3801Leu
NM_003482.3:c.11401A>C	NP_003473.3:p.Met3801Leu
ENST00000301067.11:c.11401A>C	ENSP00000301067.7:p.Met3801Leu
ENST00000683543.2:c.11401A>C	ENSP00000506726.1:p.Met3801Leu
ENST00000685166.1:c.11410A>C	ENSP00000509386.1:p.Met3804Leu
ENST00000685554.1:c.961A>C	ENSP00000508640.1:p.Met321Leu
ENST00000687201.1:c.2980A>C	ENSP00000510037.1:p.Met994Leu
ENST00000692637.1:c.11398A>C	ENSP00000509666.1:p.Met3800Leu
ENST00000692841.1:c.2880A>C	ENSP00000508711.1:n.2880A>C
XM_005269162.3:c.11401A>C	XP_005269219.1:p.Met3801Leu
XM_005269162.4:c.11401A>C	XP_005269219.1:p.Met3801Leu
XM_006719614.2:c.11410A>C	XP_006719677.1:p.Met3804Leu
XM_006719614.4:c.11410A>C	XP_006719677.1:p.Met3804Leu
XM_006719616.2:c.11398A>C	XP_006719679.1:p.Met3800Leu
XM_006719616.3:c.11398A>C	XP_006719679.1:p.Met3800Leu
XM_011538770.1:c.11410A>C	XP_011537072.1:p.Met3804Leu
XM_011538770.2:c.11410A>C	XP_011537072.1:p.Met3804Leu
XM_011538771.1:c.11407A>C	XP_011537073.1:p.Met3803Leu
XM_011538771.2:c.11407A>C	XP_011537073.1:p.Met3803Leu
XM_011538772.1:c.11401A>C	XP_011537074.1:p.Met3801Leu
XM_011538772.2:c.11401A>C	XP_011537074.1:p.Met3801Leu
XM_011538773.1:c.11398A>C	XP_011537075.1:p.Met3800Leu
XM_011538773.2:c.11398A>C	XP_011537075.1:p.Met3800Leu
XM_011538774.1:c.11389A>C	XP_011537076.1:p.Met3797Leu
XM_011538774.2:c.11389A>C	XP_011537076.1:p.Met3797Leu
XM_011538775.1:c.11410A>C	XP_011537077.1:p.Met3804Leu
XM_011538776.1:c.11317A>C	XP_011537078.1:p.Met3773Leu
XM_011538776.2:c.11317A>C	XP_011537078.1:p.Met3773Leu
XR_001748874.1:n.12719A>C
XR_944740.1:n.13730A>C