Canonical Allele Identifier: CA479708843

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49426850G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033067G>A , CM000674.2:g.49033067G>A	GRCh38
NC_000012.11:g.49426850G>A , CM000674.1:g.49426850G>A	GRCh37
NC_000012.10:g.47713117G>A	NCBI36
NG_027827.1:g.27258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11638C>T	ENSP00000506726.1:p.Leu3880=
ENST00000685166.1:c.11647C>T	ENSP00000509386.1:p.Leu3883=
ENST00000685554.1:c.1198C>T	ENSP00000508640.1:p.Leu400=
ENST00000687201.1:c.3217C>T	ENSP00000510037.1:p.Leu1073=
ENST00000692637.1:c.11635C>T	ENSP00000509666.1:p.Leu3879=
ENST00000692841.1:c.3117C>T	ENSP00000508711.1:n.3117C>T
ENST00000301067.12:c.11638C>T MANE Select	ENSP00000301067.7:p.Leu3880=
ENST00000301067.11:c.11638C>T	ENSP00000301067.7:p.Leu3880=
NM_003482.3:c.11638C>T	NP_003473.3:p.Leu3880=
XM_005269162.3:c.11638C>T	XP_005269219.1:p.Leu3880=
XM_006719614.2:c.11647C>T	XP_006719677.1:p.Leu3883=
XM_006719616.2:c.11635C>T	XP_006719679.1:p.Leu3879=
XM_011538770.1:c.11647C>T	XP_011537072.1:p.Leu3883=
XM_011538771.1:c.11644C>T	XP_011537073.1:p.Leu3882=
XM_011538772.1:c.11638C>T	XP_011537074.1:p.Leu3880=
XM_011538773.1:c.11635C>T	XP_011537075.1:p.Leu3879=
XM_011538774.1:c.11626C>T	XP_011537076.1:p.Leu3876=
XM_011538775.1:c.11647C>T	XP_011537077.1:p.Leu3883=
XM_011538776.1:c.11554C>T	XP_011537078.1:p.Leu3852=
XR_944740.1:n.13967C>T
XM_005269162.4:c.11638C>T	XP_005269219.1:p.Leu3880=
XM_006719614.4:c.11647C>T	XP_006719677.1:p.Leu3883=
XM_006719616.3:c.11635C>T	XP_006719679.1:p.Leu3879=
XM_011538770.2:c.11647C>T	XP_011537072.1:p.Leu3883=
XM_011538771.2:c.11644C>T	XP_011537073.1:p.Leu3882=
XM_011538772.2:c.11638C>T	XP_011537074.1:p.Leu3880=
XM_011538773.2:c.11635C>T	XP_011537075.1:p.Leu3879=
XM_011538774.2:c.11626C>T	XP_011537076.1:p.Leu3876=
XM_011538776.2:c.11554C>T	XP_011537078.1:p.Leu3852=
XR_001748874.1:n.12956C>T
NM_003482.4:c.11638C>T MANE Select	NP_003473.3:p.Leu3880=