Canonical Allele Identifier: CA6546184

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032139C>G , CM000674.2:g.49032139C>G	GRCh38
NC_000012.11:g.49425922C>G , CM000674.1:g.49425922C>G	GRCh37
NC_000012.10:g.47712189C>G	NCBI36
NG_027827.1:g.28186G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12566G>C MANE Select	NP_003473.3:p.Gly4189Ala
ENST00000301067.12:c.12566G>C MANE Select	ENSP00000301067.7:p.Gly4189Ala
NM_003482.3:c.12566G>C	NP_003473.3:p.Gly4189Ala
ENST00000301067.11:c.12566G>C	ENSP00000301067.7:p.Gly4189Ala
ENST00000683543.2:c.12566G>C	ENSP00000506726.1:p.Gly4189Ala
ENST00000685166.1:c.12575G>C	ENSP00000509386.1:p.Gly4192Ala
ENST00000685554.1:c.1752+374G>C	ENSP00000508640.1:n.1752+374G>C
ENST00000692637.1:c.12563G>C	ENSP00000509666.1:p.Gly4188Ala
ENST00000692841.1:c.4045G>C	ENSP00000508711.1:n.4045G>C
XM_005269162.3:c.12566G>C	XP_005269219.1:p.Gly4189Ala
XM_005269162.4:c.12566G>C	XP_005269219.1:p.Gly4189Ala
XM_006719614.2:c.12575G>C	XP_006719677.1:p.Gly4192Ala
XM_006719614.4:c.12575G>C	XP_006719677.1:p.Gly4192Ala
XM_006719616.2:c.12563G>C	XP_006719679.1:p.Gly4188Ala
XM_006719616.3:c.12563G>C	XP_006719679.1:p.Gly4188Ala
XM_011538770.1:c.12575G>C	XP_011537072.1:p.Gly4192Ala
XM_011538770.2:c.12575G>C	XP_011537072.1:p.Gly4192Ala
XM_011538771.1:c.12572G>C	XP_011537073.1:p.Gly4191Ala
XM_011538771.2:c.12572G>C	XP_011537073.1:p.Gly4191Ala
XM_011538772.1:c.12566G>C	XP_011537074.1:p.Gly4189Ala
XM_011538772.2:c.12566G>C	XP_011537074.1:p.Gly4189Ala
XM_011538773.1:c.12563G>C	XP_011537075.1:p.Gly4188Ala
XM_011538773.2:c.12563G>C	XP_011537075.1:p.Gly4188Ala
XM_011538774.1:c.12554G>C	XP_011537076.1:p.Gly4185Ala
XM_011538774.2:c.12554G>C	XP_011537076.1:p.Gly4185Ala
XM_011538775.1:c.12575G>C	XP_011537077.1:p.Gly4192Ala
XM_011538776.1:c.12482G>C	XP_011537078.1:p.Gly4161Ala
XM_011538776.2:c.12482G>C	XP_011537078.1:p.Gly4161Ala
XR_001748874.1:n.13884G>C
XR_944740.1:n.14895G>C