Canonical Allele Identifier: CA479521692

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024661-G-A
• MyVariant Identifiers: chr12:g.49418444G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024661G>A , CM000674.2:g.49024661G>A	GRCh38
NC_000012.11:g.49418444G>A , CM000674.1:g.49418444G>A	GRCh37
NC_000012.10:g.47704711G>A	NCBI36
NG_027827.1:g.35664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.641C>T
ENST00000683543.2:c.15969C>T	ENSP00000506726.1:p.Arg5323=
ENST00000683863.1:n.1684C>T
ENST00000684428.1:c.504C>T	ENSP00000507433.1:p.Arg168=
ENST00000684755.1:n.504C>T
ENST00000685024.1:c.1123C>T
ENST00000685166.1:c.15978C>T	ENSP00000509386.1:p.Arg5326=
ENST00000688411.1:c.446C>T	ENSP00000510146.1:n.446C>T
ENST00000691932.1:c.48C>T	ENSP00000509037.1:p.Arg16=
ENST00000692637.1:c.15966C>T	ENSP00000509666.1:p.Arg5322=
ENST00000301067.12:c.15969C>T MANE Select	ENSP00000301067.7:p.Arg5323=
ENST00000301067.11:c.15969C>T	ENSP00000301067.7:p.Arg5323=
NM_003482.3:c.15969C>T	NP_003473.3:p.Arg5323=
XM_005269162.3:c.15969C>T	XP_005269219.1:p.Arg5323=
XM_006719614.2:c.15978C>T	XP_006719677.1:p.Arg5326=
XM_006719616.2:c.15966C>T	XP_006719679.1:p.Arg5322=
XM_011538770.1:c.15978C>T	XP_011537072.1:p.Arg5326=
XM_011538771.1:c.15975C>T	XP_011537073.1:p.Arg5325=
XM_011538772.1:c.15969C>T	XP_011537074.1:p.Arg5323=
XM_011538773.1:c.15966C>T	XP_011537075.1:p.Arg5322=
XM_011538774.1:c.15957C>T	XP_011537076.1:p.Arg5319=
XM_011538775.1:c.15912C>T	XP_011537077.1:p.Arg5304=
XM_011538776.1:c.15885C>T	XP_011537078.1:p.Arg5295=
XM_005269162.4:c.15969C>T	XP_005269219.1:p.Arg5323=
XM_006719614.4:c.15978C>T	XP_006719677.1:p.Arg5326=
XM_006719616.3:c.15966C>T	XP_006719679.1:p.Arg5322=
XM_011538770.2:c.15978C>T	XP_011537072.1:p.Arg5326=
XM_011538771.2:c.15975C>T	XP_011537073.1:p.Arg5325=
XM_011538772.2:c.15969C>T	XP_011537074.1:p.Arg5323=
XM_011538773.2:c.15966C>T	XP_011537075.1:p.Arg5322=
XM_011538774.2:c.15957C>T	XP_011537076.1:p.Arg5319=
XM_011538776.2:c.15885C>T	XP_011537078.1:p.Arg5295=
XR_001748874.1:n.16146C>T
NM_003482.4:c.15969C>T MANE Select	NP_003473.3:p.Arg5323=