Canonical Allele Identifier: CA384681825

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418456G>T (hg19) ; chr12:g.49024673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024673G>T , CM000674.2:g.49024673G>T	GRCh38
NC_000012.11:g.49418456G>T , CM000674.1:g.49418456G>T	GRCh37
NC_000012.10:g.47704723G>T	NCBI36
NG_027827.1:g.35652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.629C>A
ENST00000683543.2:c.15957C>A	ENSP00000506726.1:p.Phe5319Leu
ENST00000683863.1:n.1672C>A
ENST00000684428.1:c.492C>A	ENSP00000507433.1:p.Phe164Leu
ENST00000684755.1:n.492C>A
ENST00000685024.1:c.1111C>A
ENST00000685166.1:c.15966C>A	ENSP00000509386.1:p.Phe5322Leu
ENST00000688411.1:c.434C>A	ENSP00000510146.1:n.434C>A
ENST00000691932.1:c.36C>A	ENSP00000509037.1:p.Phe12Leu
ENST00000692637.1:c.15954C>A	ENSP00000509666.1:p.Phe5318Leu
ENST00000301067.12:c.15957C>A MANE Select	ENSP00000301067.7:p.Phe5319Leu
ENST00000301067.11:c.15957C>A	ENSP00000301067.7:p.Phe5319Leu
NM_003482.3:c.15957C>A	NP_003473.3:p.Phe5319Leu
XM_005269162.3:c.15957C>A	XP_005269219.1:p.Phe5319Leu
XM_006719614.2:c.15966C>A	XP_006719677.1:p.Phe5322Leu
XM_006719616.2:c.15954C>A	XP_006719679.1:p.Phe5318Leu
XM_011538770.1:c.15966C>A	XP_011537072.1:p.Phe5322Leu
XM_011538771.1:c.15963C>A	XP_011537073.1:p.Phe5321Leu
XM_011538772.1:c.15957C>A	XP_011537074.1:p.Phe5319Leu
XM_011538773.1:c.15954C>A	XP_011537075.1:p.Phe5318Leu
XM_011538774.1:c.15945C>A	XP_011537076.1:p.Phe5315Leu
XM_011538775.1:c.15900C>A	XP_011537077.1:p.Phe5300Leu
XM_011538776.1:c.15873C>A	XP_011537078.1:p.Phe5291Leu
XM_005269162.4:c.15957C>A	XP_005269219.1:p.Phe5319Leu
XM_006719614.4:c.15966C>A	XP_006719677.1:p.Phe5322Leu
XM_006719616.3:c.15954C>A	XP_006719679.1:p.Phe5318Leu
XM_011538770.2:c.15966C>A	XP_011537072.1:p.Phe5322Leu
XM_011538771.2:c.15963C>A	XP_011537073.1:p.Phe5321Leu
XM_011538772.2:c.15957C>A	XP_011537074.1:p.Phe5319Leu
XM_011538773.2:c.15954C>A	XP_011537075.1:p.Phe5318Leu
XM_011538774.2:c.15945C>A	XP_011537076.1:p.Phe5315Leu
XM_011538776.2:c.15873C>A	XP_011537078.1:p.Phe5291Leu
XR_001748874.1:n.16134C>A
NM_003482.4:c.15957C>A MANE Select	NP_003473.3:p.Phe5319Leu