Canonical Allele Identifier: CA236643302

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49037142C>G , CM000674.2:g.49037142C>G	GRCh38
NC_000012.11:g.49430925C>G , CM000674.1:g.49430925C>G	GRCh37
NC_000012.10:g.47717192C>G	NCBI36
NG_027827.1:g.23183G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.10214G>C MANE Select	NP_003473.3:p.Ser3405Thr
ENST00000301067.12:c.10214G>C MANE Select	ENSP00000301067.7:p.Ser3405Thr
NM_003482.3:c.10214G>C	NP_003473.3:p.Ser3405Thr
ENST00000301067.11:c.10214G>C	ENSP00000301067.7:p.Ser3405Thr
ENST00000549743.1:n.155G>C
ENST00000683043.1:n.1913G>C
ENST00000683543.2:c.10214G>C	ENSP00000506726.1:p.Ser3405Thr
ENST00000685166.1:c.10223G>C	ENSP00000509386.1:p.Ser3408Thr
ENST00000687201.1:c.1778G>C	ENSP00000510037.1:p.Ser593Thr
ENST00000689143.1:c.3817G>C	ENSP00000509839.1:n.3817G>C
ENST00000692637.1:c.10211G>C	ENSP00000509666.1:p.Ser3404Thr
ENST00000692841.1:c.1778G>C	ENSP00000508711.1:p.Ser593Thr
XM_005269162.3:c.10214G>C	XP_005269219.1:p.Ser3405Thr
XM_005269162.4:c.10214G>C	XP_005269219.1:p.Ser3405Thr
XM_006719614.2:c.10223G>C	XP_006719677.1:p.Ser3408Thr
XM_006719614.4:c.10223G>C	XP_006719677.1:p.Ser3408Thr
XM_006719616.2:c.10211G>C	XP_006719679.1:p.Ser3404Thr
XM_006719616.3:c.10211G>C	XP_006719679.1:p.Ser3404Thr
XM_011538770.1:c.10223G>C	XP_011537072.1:p.Ser3408Thr
XM_011538770.2:c.10223G>C	XP_011537072.1:p.Ser3408Thr
XM_011538771.1:c.10220G>C	XP_011537073.1:p.Ser3407Thr
XM_011538771.2:c.10220G>C	XP_011537073.1:p.Ser3407Thr
XM_011538772.1:c.10214G>C	XP_011537074.1:p.Ser3405Thr
XM_011538772.2:c.10214G>C	XP_011537074.1:p.Ser3405Thr
XM_011538773.1:c.10211G>C	XP_011537075.1:p.Ser3404Thr
XM_011538773.2:c.10211G>C	XP_011537075.1:p.Ser3404Thr
XM_011538774.1:c.10202G>C	XP_011537076.1:p.Ser3401Thr
XM_011538774.2:c.10202G>C	XP_011537076.1:p.Ser3401Thr
XM_011538775.1:c.10223G>C	XP_011537077.1:p.Ser3408Thr
XM_011538776.1:c.10130G>C	XP_011537078.1:p.Ser3377Thr
XM_011538776.2:c.10130G>C	XP_011537078.1:p.Ser3377Thr
XR_001748874.1:n.11532G>C
XR_944740.1:n.12543G>C