Canonical Allele Identifier: CA384708086

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942920707
• MyVariant Identifiers: chr12:g.49425494T>A (hg19) ; chr12:g.49031711T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031711T>A , CM000674.2:g.49031711T>A	GRCh38
NC_000012.11:g.49425494T>A , CM000674.1:g.49425494T>A	GRCh37
NC_000012.10:g.47711761T>A	NCBI36
NG_027827.1:g.28614A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12994A>T	ENSP00000506726.1:p.Thr4332Ser
ENST00000685166.1:c.13003A>T	ENSP00000509386.1:p.Thr4335Ser
ENST00000685554.1:c.1753-399A>T	ENSP00000508640.1:n.1753-399A>T
ENST00000692637.1:c.12991A>T	ENSP00000509666.1:p.Thr4331Ser
ENST00000692841.1:c.4473A>T	ENSP00000508711.1:n.4473A>T
ENST00000301067.12:c.12994A>T MANE Select	ENSP00000301067.7:p.Thr4332Ser
ENST00000301067.11:c.12994A>T	ENSP00000301067.7:p.Thr4332Ser
NM_003482.3:c.12994A>T	NP_003473.3:p.Thr4332Ser
XM_005269162.3:c.12994A>T	XP_005269219.1:p.Thr4332Ser
XM_006719614.2:c.13003A>T	XP_006719677.1:p.Thr4335Ser
XM_006719616.2:c.12991A>T	XP_006719679.1:p.Thr4331Ser
XM_011538770.1:c.13003A>T	XP_011537072.1:p.Thr4335Ser
XM_011538771.1:c.13000A>T	XP_011537073.1:p.Thr4334Ser
XM_011538772.1:c.12994A>T	XP_011537074.1:p.Thr4332Ser
XM_011538773.1:c.12991A>T	XP_011537075.1:p.Thr4331Ser
XM_011538774.1:c.12982A>T	XP_011537076.1:p.Thr4328Ser
XM_011538775.1:c.13003A>T	XP_011537077.1:p.Thr4335Ser
XM_011538776.1:c.12910A>T	XP_011537078.1:p.Thr4304Ser
XR_944740.1:n.15323A>T
XM_005269162.4:c.12994A>T	XP_005269219.1:p.Thr4332Ser
XM_006719614.4:c.13003A>T	XP_006719677.1:p.Thr4335Ser
XM_006719616.3:c.12991A>T	XP_006719679.1:p.Thr4331Ser
XM_011538770.2:c.13003A>T	XP_011537072.1:p.Thr4335Ser
XM_011538771.2:c.13000A>T	XP_011537073.1:p.Thr4334Ser
XM_011538772.2:c.12994A>T	XP_011537074.1:p.Thr4332Ser
XM_011538773.2:c.12991A>T	XP_011537075.1:p.Thr4331Ser
XM_011538774.2:c.12982A>T	XP_011537076.1:p.Thr4328Ser
XM_011538776.2:c.12910A>T	XP_011537078.1:p.Thr4304Ser
XR_001748874.1:n.14312A>T
NM_003482.4:c.12994A>T MANE Select	NP_003473.3:p.Thr4332Ser