Canonical Allele Identifier: CA384716634

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49426805C>A (hg19) ; chr12:g.49033022C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033022C>A , CM000674.2:g.49033022C>A	GRCh38
NC_000012.11:g.49426805C>A , CM000674.1:g.49426805C>A	GRCh37
NC_000012.10:g.47713072C>A	NCBI36
NG_027827.1:g.27303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11683G>T	ENSP00000506726.1:p.Gly3895Cys
ENST00000685166.1:c.11692G>T	ENSP00000509386.1:p.Gly3898Cys
ENST00000685554.1:c.1243G>T	ENSP00000508640.1:p.Gly415Cys
ENST00000687201.1:c.3262G>T	ENSP00000510037.1:p.Gly1088Cys
ENST00000692637.1:c.11680G>T	ENSP00000509666.1:p.Gly3894Cys
ENST00000692841.1:c.3162G>T	ENSP00000508711.1:n.3162G>T
ENST00000301067.12:c.11683G>T MANE Select	ENSP00000301067.7:p.Gly3895Cys
ENST00000301067.11:c.11683G>T	ENSP00000301067.7:p.Gly3895Cys
NM_003482.3:c.11683G>T	NP_003473.3:p.Gly3895Cys
XM_005269162.3:c.11683G>T	XP_005269219.1:p.Gly3895Cys
XM_006719614.2:c.11692G>T	XP_006719677.1:p.Gly3898Cys
XM_006719616.2:c.11680G>T	XP_006719679.1:p.Gly3894Cys
XM_011538770.1:c.11692G>T	XP_011537072.1:p.Gly3898Cys
XM_011538771.1:c.11689G>T	XP_011537073.1:p.Gly3897Cys
XM_011538772.1:c.11683G>T	XP_011537074.1:p.Gly3895Cys
XM_011538773.1:c.11680G>T	XP_011537075.1:p.Gly3894Cys
XM_011538774.1:c.11671G>T	XP_011537076.1:p.Gly3891Cys
XM_011538775.1:c.11692G>T	XP_011537077.1:p.Gly3898Cys
XM_011538776.1:c.11599G>T	XP_011537078.1:p.Gly3867Cys
XR_944740.1:n.14012G>T
XM_005269162.4:c.11683G>T	XP_005269219.1:p.Gly3895Cys
XM_006719614.4:c.11692G>T	XP_006719677.1:p.Gly3898Cys
XM_006719616.3:c.11680G>T	XP_006719679.1:p.Gly3894Cys
XM_011538770.2:c.11692G>T	XP_011537072.1:p.Gly3898Cys
XM_011538771.2:c.11689G>T	XP_011537073.1:p.Gly3897Cys
XM_011538772.2:c.11683G>T	XP_011537074.1:p.Gly3895Cys
XM_011538773.2:c.11680G>T	XP_011537075.1:p.Gly3894Cys
XM_011538774.2:c.11671G>T	XP_011537076.1:p.Gly3891Cys
XM_011538776.2:c.11599G>T	XP_011537078.1:p.Gly3867Cys
XR_001748874.1:n.13001G>T
NM_003482.4:c.11683G>T MANE Select	NP_003473.3:p.Gly3895Cys