Canonical Allele Identifier: CA236629929

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022147T>C , CM000674.2:g.49022147T>C	GRCh38
NC_000012.11:g.49415930T>C , CM000674.1:g.49415930T>C	GRCh37
NC_000012.10:g.47702197T>C	NCBI36
NG_027827.1:g.38178A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16417A>G MANE Select	NP_003473.3:p.Ile5473Val
ENST00000301067.12:c.16417A>G MANE Select	ENSP00000301067.7:p.Ile5473Val
NM_003482.3:c.16417A>G	NP_003473.3:p.Ile5473Val
ENST00000301067.11:c.16417A>G	ENSP00000301067.7:p.Ile5473Val
ENST00000526209.1:c.460A>G	ENSP00000435714.1:p.Ile154Val
ENST00000526209.2:c.387A>G
ENST00000681974.1:n.1089A>G
ENST00000682693.1:n.2051A>G
ENST00000682886.1:n.823A>G
ENST00000683543.2:c.16465A>G	ENSP00000506726.1:p.Ile5489Val
ENST00000683988.1:c.388A>G	ENSP00000506939.1:p.Ile130Val
ENST00000684428.1:c.1010A>G	ENSP00000507433.1:n.1010A>G
ENST00000685024.1:c.1571A>G
ENST00000685166.1:c.16426A>G	ENSP00000509386.1:p.Ile5476Val
ENST00000691932.1:c.418A>G	ENSP00000509037.1:p.Ile140Val
ENST00000692637.1:c.16414A>G	ENSP00000509666.1:p.Ile5472Val
XM_005269162.3:c.16417A>G	XP_005269219.1:p.Ile5473Val
XM_005269162.4:c.16417A>G	XP_005269219.1:p.Ile5473Val
XM_006719614.2:c.16426A>G	XP_006719677.1:p.Ile5476Val
XM_006719614.4:c.16426A>G	XP_006719677.1:p.Ile5476Val
XM_006719616.2:c.16414A>G	XP_006719679.1:p.Ile5472Val
XM_006719616.3:c.16414A>G	XP_006719679.1:p.Ile5472Val
XM_011538770.1:c.16474A>G	XP_011537072.1:p.Ile5492Val
XM_011538770.2:c.16474A>G	XP_011537072.1:p.Ile5492Val
XM_011538771.1:c.16471A>G	XP_011537073.1:p.Ile5491Val
XM_011538771.2:c.16471A>G	XP_011537073.1:p.Ile5491Val
XM_011538772.1:c.16465A>G	XP_011537074.1:p.Ile5489Val
XM_011538772.2:c.16465A>G	XP_011537074.1:p.Ile5489Val
XM_011538773.1:c.16462A>G	XP_011537075.1:p.Ile5488Val
XM_011538773.2:c.16462A>G	XP_011537075.1:p.Ile5488Val
XM_011538774.1:c.16453A>G	XP_011537076.1:p.Ile5485Val
XM_011538774.2:c.16453A>G	XP_011537076.1:p.Ile5485Val
XM_011538775.1:c.16408A>G	XP_011537077.1:p.Ile5470Val
XM_011538776.1:c.16381A>G	XP_011537078.1:p.Ile5461Val
XM_011538776.2:c.16381A>G	XP_011537078.1:p.Ile5461Val
XR_001748874.1:n.16594A>G