Canonical Allele Identifier: CA384717136

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1409185
• ClinVar RCV Id: RCV001913512
• dbSNP Id: rs1592120054
• MyVariant Identifiers: chr12:g.49426864T>G (hg19) ; chr12:g.49033081T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033081T>G , CM000674.2:g.49033081T>G	GRCh38
NC_000012.11:g.49426864T>G , CM000674.1:g.49426864T>G	GRCh37
NC_000012.10:g.47713131T>G	NCBI36
NG_027827.1:g.27244A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11624A>C	ENSP00000506726.1:p.His3875Pro
ENST00000685166.1:c.11633A>C	ENSP00000509386.1:p.His3878Pro
ENST00000685554.1:c.1184A>C	ENSP00000508640.1:p.His395Pro
ENST00000687201.1:c.3203A>C	ENSP00000510037.1:p.His1068Pro
ENST00000692637.1:c.11621A>C	ENSP00000509666.1:p.His3874Pro
ENST00000692841.1:c.3103A>C	ENSP00000508711.1:n.3103A>C
ENST00000301067.12:c.11624A>C MANE Select	ENSP00000301067.7:p.His3875Pro
ENST00000301067.11:c.11624A>C	ENSP00000301067.7:p.His3875Pro
NM_003482.3:c.11624A>C	NP_003473.3:p.His3875Pro
XM_005269162.3:c.11624A>C	XP_005269219.1:p.His3875Pro
XM_006719614.2:c.11633A>C	XP_006719677.1:p.His3878Pro
XM_006719616.2:c.11621A>C	XP_006719679.1:p.His3874Pro
XM_011538770.1:c.11633A>C	XP_011537072.1:p.His3878Pro
XM_011538771.1:c.11630A>C	XP_011537073.1:p.His3877Pro
XM_011538772.1:c.11624A>C	XP_011537074.1:p.His3875Pro
XM_011538773.1:c.11621A>C	XP_011537075.1:p.His3874Pro
XM_011538774.1:c.11612A>C	XP_011537076.1:p.His3871Pro
XM_011538775.1:c.11633A>C	XP_011537077.1:p.His3878Pro
XM_011538776.1:c.11540A>C	XP_011537078.1:p.His3847Pro
XR_944740.1:n.13953A>C
XM_005269162.4:c.11624A>C	XP_005269219.1:p.His3875Pro
XM_006719614.4:c.11633A>C	XP_006719677.1:p.His3878Pro
XM_006719616.3:c.11621A>C	XP_006719679.1:p.His3874Pro
XM_011538770.2:c.11633A>C	XP_011537072.1:p.His3878Pro
XM_011538771.2:c.11630A>C	XP_011537073.1:p.His3877Pro
XM_011538772.2:c.11624A>C	XP_011537074.1:p.His3875Pro
XM_011538773.2:c.11621A>C	XP_011537075.1:p.His3874Pro
XM_011538774.2:c.11612A>C	XP_011537076.1:p.His3871Pro
XM_011538776.2:c.11540A>C	XP_011537078.1:p.His3847Pro
XR_001748874.1:n.12942A>C
NM_003482.4:c.11624A>C MANE Select	NP_003473.3:p.His3875Pro