Canonical Allele Identifier: CA479511714

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042144-G-A
• MyVariant Identifiers: chr12:g.49435927G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042144G>A , CM000674.2:g.49042144G>A	GRCh38
NC_000012.11:g.49435927G>A , CM000674.1:g.49435927G>A	GRCh37
NC_000012.10:g.47722194G>A	NCBI36
NG_027827.1:g.18181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.845C>T
ENST00000683543.2:c.6054C>T	ENSP00000506726.1:p.Ile2018=
ENST00000685166.1:c.6063C>T	ENSP00000509386.1:p.Ile2021=
ENST00000689060.1:c.166C>T
ENST00000689944.1:c.166C>T
ENST00000692637.1:c.6051C>T	ENSP00000509666.1:p.Ile2017=
ENST00000301067.12:c.6054C>T MANE Select	ENSP00000301067.7:p.Ile2018=
ENST00000301067.11:c.6054C>T	ENSP00000301067.7:p.Ile2018=
NM_003482.3:c.6054C>T	NP_003473.3:p.Ile2018=
XM_005269162.3:c.6054C>T	XP_005269219.1:p.Ile2018=
XM_006719614.2:c.6063C>T	XP_006719677.1:p.Ile2021=
XM_006719616.2:c.6051C>T	XP_006719679.1:p.Ile2017=
XM_011538770.1:c.6063C>T	XP_011537072.1:p.Ile2021=
XM_011538771.1:c.6060C>T	XP_011537073.1:p.Ile2020=
XM_011538772.1:c.6054C>T	XP_011537074.1:p.Ile2018=
XM_011538773.1:c.6051C>T	XP_011537075.1:p.Ile2017=
XM_011538774.1:c.6042C>T	XP_011537076.1:p.Ile2014=
XM_011538775.1:c.6063C>T	XP_011537077.1:p.Ile2021=
XM_011538776.1:c.6063C>T	XP_011537078.1:p.Ile2021=
XR_944740.1:n.8383C>T
XM_005269162.4:c.6054C>T	XP_005269219.1:p.Ile2018=
XM_006719614.4:c.6063C>T	XP_006719677.1:p.Ile2021=
XM_006719616.3:c.6051C>T	XP_006719679.1:p.Ile2017=
XM_011538770.2:c.6063C>T	XP_011537072.1:p.Ile2021=
XM_011538771.2:c.6060C>T	XP_011537073.1:p.Ile2020=
XM_011538772.2:c.6054C>T	XP_011537074.1:p.Ile2018=
XM_011538773.2:c.6051C>T	XP_011537075.1:p.Ile2017=
XM_011538774.2:c.6042C>T	XP_011537076.1:p.Ile2014=
XM_011538776.2:c.6063C>T	XP_011537078.1:p.Ile2021=
XR_001748874.1:n.7372C>T
NM_003482.4:c.6054C>T MANE Select	NP_003473.3:p.Ile2018=