Canonical Allele Identifier: CA236639670

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032531C>T , CM000674.2:g.49032531C>T	GRCh38
NC_000012.11:g.49426314C>T , CM000674.1:g.49426314C>T	GRCh37
NC_000012.10:g.47712581C>T	NCBI36
NG_027827.1:g.27794G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12174G>A MANE Select	NP_003473.3:p.Met4058Ile
ENST00000301067.12:c.12174G>A MANE Select	ENSP00000301067.7:p.Met4058Ile
NM_003482.3:c.12174G>A	NP_003473.3:p.Met4058Ile
ENST00000301067.11:c.12174G>A	ENSP00000301067.7:p.Met4058Ile
ENST00000683543.2:c.12174G>A	ENSP00000506726.1:p.Met4058Ile
ENST00000685166.1:c.12183G>A	ENSP00000509386.1:p.Met4061Ile
ENST00000685554.1:c.1734G>A	ENSP00000508640.1:p.Met578Ile
ENST00000687201.1:c.3753G>A	ENSP00000510037.1:p.Met1251Ile
ENST00000692637.1:c.12171G>A	ENSP00000509666.1:p.Met4057Ile
ENST00000692841.1:c.3653G>A	ENSP00000508711.1:n.3653G>A
XM_005269162.3:c.12174G>A	XP_005269219.1:p.Met4058Ile
XM_005269162.4:c.12174G>A	XP_005269219.1:p.Met4058Ile
XM_006719614.2:c.12183G>A	XP_006719677.1:p.Met4061Ile
XM_006719614.4:c.12183G>A	XP_006719677.1:p.Met4061Ile
XM_006719616.2:c.12171G>A	XP_006719679.1:p.Met4057Ile
XM_006719616.3:c.12171G>A	XP_006719679.1:p.Met4057Ile
XM_011538770.1:c.12183G>A	XP_011537072.1:p.Met4061Ile
XM_011538770.2:c.12183G>A	XP_011537072.1:p.Met4061Ile
XM_011538771.1:c.12180G>A	XP_011537073.1:p.Met4060Ile
XM_011538771.2:c.12180G>A	XP_011537073.1:p.Met4060Ile
XM_011538772.1:c.12174G>A	XP_011537074.1:p.Met4058Ile
XM_011538772.2:c.12174G>A	XP_011537074.1:p.Met4058Ile
XM_011538773.1:c.12171G>A	XP_011537075.1:p.Met4057Ile
XM_011538773.2:c.12171G>A	XP_011537075.1:p.Met4057Ile
XM_011538774.1:c.12162G>A	XP_011537076.1:p.Met4054Ile
XM_011538774.2:c.12162G>A	XP_011537076.1:p.Met4054Ile
XM_011538775.1:c.12183G>A	XP_011537077.1:p.Met4061Ile
XM_011538776.1:c.12090G>A	XP_011537078.1:p.Met4030Ile
XM_011538776.2:c.12090G>A	XP_011537078.1:p.Met4030Ile
XR_001748874.1:n.13492G>A
XR_944740.1:n.14503G>A