Canonical Allele Identifier: CA479709100

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49426875T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033092T>C , CM000674.2:g.49033092T>C	GRCh38
NC_000012.11:g.49426875T>C , CM000674.1:g.49426875T>C	GRCh37
NC_000012.10:g.47713142T>C	NCBI36
NG_027827.1:g.27233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11613A>G	ENSP00000506726.1:p.Ala3871=
ENST00000685166.1:c.11622A>G	ENSP00000509386.1:p.Ala3874=
ENST00000685554.1:c.1173A>G	ENSP00000508640.1:p.Ala391=
ENST00000687201.1:c.3192A>G	ENSP00000510037.1:p.Ala1064=
ENST00000692637.1:c.11610A>G	ENSP00000509666.1:p.Ala3870=
ENST00000692841.1:c.3092A>G	ENSP00000508711.1:n.3092A>G
ENST00000301067.12:c.11613A>G MANE Select	ENSP00000301067.7:p.Ala3871=
ENST00000301067.11:c.11613A>G	ENSP00000301067.7:p.Ala3871=
NM_003482.3:c.11613A>G	NP_003473.3:p.Ala3871=
XM_005269162.3:c.11613A>G	XP_005269219.1:p.Ala3871=
XM_006719614.2:c.11622A>G	XP_006719677.1:p.Ala3874=
XM_006719616.2:c.11610A>G	XP_006719679.1:p.Ala3870=
XM_011538770.1:c.11622A>G	XP_011537072.1:p.Ala3874=
XM_011538771.1:c.11619A>G	XP_011537073.1:p.Ala3873=
XM_011538772.1:c.11613A>G	XP_011537074.1:p.Ala3871=
XM_011538773.1:c.11610A>G	XP_011537075.1:p.Ala3870=
XM_011538774.1:c.11601A>G	XP_011537076.1:p.Ala3867=
XM_011538775.1:c.11622A>G	XP_011537077.1:p.Ala3874=
XM_011538776.1:c.11529A>G	XP_011537078.1:p.Ala3843=
XR_944740.1:n.13942A>G
XM_005269162.4:c.11613A>G	XP_005269219.1:p.Ala3871=
XM_006719614.4:c.11622A>G	XP_006719677.1:p.Ala3874=
XM_006719616.3:c.11610A>G	XP_006719679.1:p.Ala3870=
XM_011538770.2:c.11622A>G	XP_011537072.1:p.Ala3874=
XM_011538771.2:c.11619A>G	XP_011537073.1:p.Ala3873=
XM_011538772.2:c.11613A>G	XP_011537074.1:p.Ala3871=
XM_011538773.2:c.11610A>G	XP_011537075.1:p.Ala3870=
XM_011538774.2:c.11601A>G	XP_011537076.1:p.Ala3867=
XM_011538776.2:c.11529A>G	XP_011537078.1:p.Ala3843=
XR_001748874.1:n.12931A>G
NM_003482.4:c.11613A>G MANE Select	NP_003473.3:p.Ala3871=