Canonical Allele Identifier: CA6545782

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49028937T>C , CM000674.2:g.49028937T>C	GRCh38
NC_000012.11:g.49422720T>C , CM000674.1:g.49422720T>C	GRCh37
NC_000012.10:g.47708987T>C	NCBI36
NG_027827.1:g.31388A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14273A>G MANE Select	NP_003473.3:p.Tyr4758Cys
ENST00000301067.12:c.14273A>G MANE Select	ENSP00000301067.7:p.Tyr4758Cys
NM_003482.3:c.14273A>G	NP_003473.3:p.Tyr4758Cys
ENST00000301067.11:c.14273A>G	ENSP00000301067.7:p.Tyr4758Cys
ENST00000683543.2:c.14273A>G	ENSP00000506726.1:p.Tyr4758Cys
ENST00000685166.1:c.14282A>G	ENSP00000509386.1:p.Tyr4761Cys
ENST00000687241.1:c.343+124A>G	ENSP00000509842.1:n.343+124A>G
ENST00000692637.1:c.14270A>G	ENSP00000509666.1:p.Tyr4757Cys
XM_005269162.3:c.14273A>G	XP_005269219.1:p.Tyr4758Cys
XM_005269162.4:c.14273A>G	XP_005269219.1:p.Tyr4758Cys
XM_006719614.2:c.14282A>G	XP_006719677.1:p.Tyr4761Cys
XM_006719614.4:c.14282A>G	XP_006719677.1:p.Tyr4761Cys
XM_006719616.2:c.14270A>G	XP_006719679.1:p.Tyr4757Cys
XM_006719616.3:c.14270A>G	XP_006719679.1:p.Tyr4757Cys
XM_011538770.1:c.14282A>G	XP_011537072.1:p.Tyr4761Cys
XM_011538770.2:c.14282A>G	XP_011537072.1:p.Tyr4761Cys
XM_011538771.1:c.14279A>G	XP_011537073.1:p.Tyr4760Cys
XM_011538771.2:c.14279A>G	XP_011537073.1:p.Tyr4760Cys
XM_011538772.1:c.14273A>G	XP_011537074.1:p.Tyr4758Cys
XM_011538772.2:c.14273A>G	XP_011537074.1:p.Tyr4758Cys
XM_011538773.1:c.14270A>G	XP_011537075.1:p.Tyr4757Cys
XM_011538773.2:c.14270A>G	XP_011537075.1:p.Tyr4757Cys
XM_011538774.1:c.14261A>G	XP_011537076.1:p.Tyr4754Cys
XM_011538774.2:c.14261A>G	XP_011537076.1:p.Tyr4754Cys
XM_011538775.1:c.14216A>G	XP_011537077.1:p.Tyr4739Cys
XM_011538776.1:c.14189A>G	XP_011537078.1:p.Tyr4730Cys
XM_011538776.2:c.14189A>G	XP_011537078.1:p.Tyr4730Cys
XR_001748874.1:n.15591A>G
XR_944740.1:n.16602A>G