Canonical Allele Identifier: CA384716781

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49426822A>T (hg19) ; chr12:g.49033039A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033039A>T , CM000674.2:g.49033039A>T	GRCh38
NC_000012.11:g.49426822A>T , CM000674.1:g.49426822A>T	GRCh37
NC_000012.10:g.47713089A>T	NCBI36
NG_027827.1:g.27286T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11666T>A	ENSP00000506726.1:p.Leu3889Gln
ENST00000685166.1:c.11675T>A	ENSP00000509386.1:p.Leu3892Gln
ENST00000685554.1:c.1226T>A	ENSP00000508640.1:p.Leu409Gln
ENST00000687201.1:c.3245T>A	ENSP00000510037.1:p.Leu1082Gln
ENST00000692637.1:c.11663T>A	ENSP00000509666.1:p.Leu3888Gln
ENST00000692841.1:c.3145T>A	ENSP00000508711.1:n.3145T>A
ENST00000301067.12:c.11666T>A MANE Select	ENSP00000301067.7:p.Leu3889Gln
ENST00000301067.11:c.11666T>A	ENSP00000301067.7:p.Leu3889Gln
NM_003482.3:c.11666T>A	NP_003473.3:p.Leu3889Gln
XM_005269162.3:c.11666T>A	XP_005269219.1:p.Leu3889Gln
XM_006719614.2:c.11675T>A	XP_006719677.1:p.Leu3892Gln
XM_006719616.2:c.11663T>A	XP_006719679.1:p.Leu3888Gln
XM_011538770.1:c.11675T>A	XP_011537072.1:p.Leu3892Gln
XM_011538771.1:c.11672T>A	XP_011537073.1:p.Leu3891Gln
XM_011538772.1:c.11666T>A	XP_011537074.1:p.Leu3889Gln
XM_011538773.1:c.11663T>A	XP_011537075.1:p.Leu3888Gln
XM_011538774.1:c.11654T>A	XP_011537076.1:p.Leu3885Gln
XM_011538775.1:c.11675T>A	XP_011537077.1:p.Leu3892Gln
XM_011538776.1:c.11582T>A	XP_011537078.1:p.Leu3861Gln
XR_944740.1:n.13995T>A
XM_005269162.4:c.11666T>A	XP_005269219.1:p.Leu3889Gln
XM_006719614.4:c.11675T>A	XP_006719677.1:p.Leu3892Gln
XM_006719616.3:c.11663T>A	XP_006719679.1:p.Leu3888Gln
XM_011538770.2:c.11675T>A	XP_011537072.1:p.Leu3892Gln
XM_011538771.2:c.11672T>A	XP_011537073.1:p.Leu3891Gln
XM_011538772.2:c.11666T>A	XP_011537074.1:p.Leu3889Gln
XM_011538773.2:c.11663T>A	XP_011537075.1:p.Leu3888Gln
XM_011538774.2:c.11654T>A	XP_011537076.1:p.Leu3885Gln
XM_011538776.2:c.11582T>A	XP_011537078.1:p.Leu3861Gln
XR_001748874.1:n.12984T>A
NM_003482.4:c.11666T>A MANE Select	NP_003473.3:p.Leu3889Gln