Canonical Allele Identifier: CA384715136

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 531890
• ClinVar RCV Id: RCV000638439
• dbSNP Id: rs1350605713
• MyVariant Identifiers: chr12:g.49426676G>A (hg19) ; chr12:g.49032893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032893G>A , CM000674.2:g.49032893G>A	GRCh38
NC_000012.11:g.49426676G>A , CM000674.1:g.49426676G>A	GRCh37
NC_000012.10:g.47712943G>A	NCBI36
NG_027827.1:g.27432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11812C>T	ENSP00000506726.1:p.Gln3938Ter
ENST00000685166.1:c.11821C>T	ENSP00000509386.1:p.Gln3941Ter
ENST00000685554.1:c.1372C>T	ENSP00000508640.1:p.Gln458Ter
ENST00000687201.1:c.3391C>T	ENSP00000510037.1:p.Gln1131Ter
ENST00000692637.1:c.11809C>T	ENSP00000509666.1:p.Gln3937Ter
ENST00000692841.1:c.3291C>T	ENSP00000508711.1:n.3291C>T
ENST00000301067.12:c.11812C>T MANE Select	ENSP00000301067.7:p.Gln3938Ter
ENST00000301067.11:c.11812C>T	ENSP00000301067.7:p.Gln3938Ter
NM_003482.3:c.11812C>T	NP_003473.3:p.Gln3938Ter
XM_005269162.3:c.11812C>T	XP_005269219.1:p.Gln3938Ter
XM_006719614.2:c.11821C>T	XP_006719677.1:p.Gln3941Ter
XM_006719616.2:c.11809C>T	XP_006719679.1:p.Gln3937Ter
XM_011538770.1:c.11821C>T	XP_011537072.1:p.Gln3941Ter
XM_011538771.1:c.11818C>T	XP_011537073.1:p.Gln3940Ter
XM_011538772.1:c.11812C>T	XP_011537074.1:p.Gln3938Ter
XM_011538773.1:c.11809C>T	XP_011537075.1:p.Gln3937Ter
XM_011538774.1:c.11800C>T	XP_011537076.1:p.Gln3934Ter
XM_011538775.1:c.11821C>T	XP_011537077.1:p.Gln3941Ter
XM_011538776.1:c.11728C>T	XP_011537078.1:p.Gln3910Ter
XR_944740.1:n.14141C>T
XM_005269162.4:c.11812C>T	XP_005269219.1:p.Gln3938Ter
XM_006719614.4:c.11821C>T	XP_006719677.1:p.Gln3941Ter
XM_006719616.3:c.11809C>T	XP_006719679.1:p.Gln3937Ter
XM_011538770.2:c.11821C>T	XP_011537072.1:p.Gln3941Ter
XM_011538771.2:c.11818C>T	XP_011537073.1:p.Gln3940Ter
XM_011538772.2:c.11812C>T	XP_011537074.1:p.Gln3938Ter
XM_011538773.2:c.11809C>T	XP_011537075.1:p.Gln3937Ter
XM_011538774.2:c.11800C>T	XP_011537076.1:p.Gln3934Ter
XM_011538776.2:c.11728C>T	XP_011537078.1:p.Gln3910Ter
XR_001748874.1:n.13130C>T
NM_003482.4:c.11812C>T MANE Select	NP_003473.3:p.Gln3938Ter