Canonical Allele Identifier: CA6546090

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031706C>G , CM000674.2:g.49031706C>G	GRCh38
NC_000012.11:g.49425489C>G , CM000674.1:g.49425489C>G	GRCh37
NC_000012.10:g.47711756C>G	NCBI36
NG_027827.1:g.28619G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12999G>C MANE Select	NP_003473.3:p.Glu4333Asp
ENST00000301067.12:c.12999G>C MANE Select	ENSP00000301067.7:p.Glu4333Asp
NM_003482.3:c.12999G>C	NP_003473.3:p.Glu4333Asp
ENST00000301067.11:c.12999G>C	ENSP00000301067.7:p.Glu4333Asp
ENST00000683543.2:c.12999G>C	ENSP00000506726.1:p.Glu4333Asp
ENST00000685166.1:c.13008G>C	ENSP00000509386.1:p.Glu4336Asp
ENST00000685554.1:c.1753-394G>C	ENSP00000508640.1:n.1753-394G>C
ENST00000692637.1:c.12996G>C	ENSP00000509666.1:p.Glu4332Asp
ENST00000692841.1:c.4478G>C	ENSP00000508711.1:n.4478G>C
XM_005269162.3:c.12999G>C	XP_005269219.1:p.Glu4333Asp
XM_005269162.4:c.12999G>C	XP_005269219.1:p.Glu4333Asp
XM_006719614.2:c.13008G>C	XP_006719677.1:p.Glu4336Asp
XM_006719614.4:c.13008G>C	XP_006719677.1:p.Glu4336Asp
XM_006719616.2:c.12996G>C	XP_006719679.1:p.Glu4332Asp
XM_006719616.3:c.12996G>C	XP_006719679.1:p.Glu4332Asp
XM_011538770.1:c.13008G>C	XP_011537072.1:p.Glu4336Asp
XM_011538770.2:c.13008G>C	XP_011537072.1:p.Glu4336Asp
XM_011538771.1:c.13005G>C	XP_011537073.1:p.Glu4335Asp
XM_011538771.2:c.13005G>C	XP_011537073.1:p.Glu4335Asp
XM_011538772.1:c.12999G>C	XP_011537074.1:p.Glu4333Asp
XM_011538772.2:c.12999G>C	XP_011537074.1:p.Glu4333Asp
XM_011538773.1:c.12996G>C	XP_011537075.1:p.Glu4332Asp
XM_011538773.2:c.12996G>C	XP_011537075.1:p.Glu4332Asp
XM_011538774.1:c.12987G>C	XP_011537076.1:p.Glu4329Asp
XM_011538774.2:c.12987G>C	XP_011537076.1:p.Glu4329Asp
XM_011538775.1:c.13008G>C	XP_011537077.1:p.Glu4336Asp
XM_011538776.1:c.12915G>C	XP_011537078.1:p.Glu4305Asp
XM_011538776.2:c.12915G>C	XP_011537078.1:p.Glu4305Asp
XR_001748874.1:n.14317G>C
XR_944740.1:n.15328G>C