Canonical Allele Identifier: CA6545731

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49028033T>G , CM000674.2:g.49028033T>G	GRCh38
NC_000012.11:g.49421816T>G , CM000674.1:g.49421816T>G	GRCh37
NC_000012.10:g.47708083T>G	NCBI36
NG_027827.1:g.32292A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14491A>C MANE Select	NP_003473.3:p.Lys4831Gln
ENST00000301067.12:c.14491A>C MANE Select	ENSP00000301067.7:p.Lys4831Gln
NM_003482.3:c.14491A>C	NP_003473.3:p.Lys4831Gln
ENST00000301067.11:c.14491A>C	ENSP00000301067.7:p.Lys4831Gln
ENST00000683543.2:c.14491A>C	ENSP00000506726.1:p.Lys4831Gln
ENST00000685166.1:c.14500A>C	ENSP00000509386.1:p.Lys4834Gln
ENST00000687241.1:c.452A>C	ENSP00000509842.1:n.452A>C
ENST00000688411.1:c.109A>C	ENSP00000510146.1:p.Lys37Gln
ENST00000691463.1:c.109A>C	ENSP00000510624.1:p.Lys37Gln
ENST00000692637.1:c.14488A>C	ENSP00000509666.1:p.Lys4830Gln
XM_005269162.3:c.14491A>C	XP_005269219.1:p.Lys4831Gln
XM_005269162.4:c.14491A>C	XP_005269219.1:p.Lys4831Gln
XM_006719614.2:c.14500A>C	XP_006719677.1:p.Lys4834Gln
XM_006719614.4:c.14500A>C	XP_006719677.1:p.Lys4834Gln
XM_006719616.2:c.14488A>C	XP_006719679.1:p.Lys4830Gln
XM_006719616.3:c.14488A>C	XP_006719679.1:p.Lys4830Gln
XM_011538770.1:c.14500A>C	XP_011537072.1:p.Lys4834Gln
XM_011538770.2:c.14500A>C	XP_011537072.1:p.Lys4834Gln
XM_011538771.1:c.14497A>C	XP_011537073.1:p.Lys4833Gln
XM_011538771.2:c.14497A>C	XP_011537073.1:p.Lys4833Gln
XM_011538772.1:c.14491A>C	XP_011537074.1:p.Lys4831Gln
XM_011538772.2:c.14491A>C	XP_011537074.1:p.Lys4831Gln
XM_011538773.1:c.14488A>C	XP_011537075.1:p.Lys4830Gln
XM_011538773.2:c.14488A>C	XP_011537075.1:p.Lys4830Gln
XM_011538774.1:c.14479A>C	XP_011537076.1:p.Lys4827Gln
XM_011538774.2:c.14479A>C	XP_011537076.1:p.Lys4827Gln
XM_011538775.1:c.14434A>C	XP_011537077.1:p.Lys4812Gln
XM_011538776.1:c.14407A>C	XP_011537078.1:p.Lys4803Gln
XM_011538776.2:c.14407A>C	XP_011537078.1:p.Lys4803Gln
XR_001748874.1:n.15809A>C
XR_944740.1:n.16820A>C