Canonical Allele Identifier: CA6545956

Gene: KMT2D

Linked Data

• dbSNP Id: rs749984453
• ExAC: 12:49424701 T / G
• gnomAD v3: 12-49030918-T-G
• gnomAD v4: 12-49030918-T-G
• MyVariant Identifiers: chr12:g.49424701T>G (hg19) ; chr12:g.49030918T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030918T>G , CM000674.2:g.49030918T>G	GRCh38
NC_000012.11:g.49424701T>G , CM000674.1:g.49424701T>G	GRCh37
NC_000012.10:g.47710968T>G	NCBI36
NG_027827.1:g.29407A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.346A>C
ENST00000683543.2:c.13646A>C	ENSP00000506726.1:p.Glu4549Ala
ENST00000685166.1:c.13655A>C	ENSP00000509386.1:p.Glu4552Ala
ENST00000685982.1:c.139-150A>C	ENSP00000508613.1:n.139-150A>C
ENST00000691986.1:c.138+257A>C	ENSP00000509196.1:n.138+257A>C
ENST00000692637.1:c.13643A>C	ENSP00000509666.1:p.Glu4548Ala
ENST00000692973.1:c.247A>C	ENSP00000508893.1:n.247A>C
ENST00000301067.12:c.13646A>C MANE Select	ENSP00000301067.7:p.Glu4549Ala
ENST00000301067.11:c.13646A>C	ENSP00000301067.7:p.Glu4549Ala
ENST00000552391.1:n.346A>C
NM_003482.3:c.13646A>C	NP_003473.3:p.Glu4549Ala
XM_005269162.3:c.13646A>C	XP_005269219.1:p.Glu4549Ala
XM_006719614.2:c.13655A>C	XP_006719677.1:p.Glu4552Ala
XM_006719616.2:c.13643A>C	XP_006719679.1:p.Glu4548Ala
XM_011538770.1:c.13655A>C	XP_011537072.1:p.Glu4552Ala
XM_011538771.1:c.13652A>C	XP_011537073.1:p.Glu4551Ala
XM_011538772.1:c.13646A>C	XP_011537074.1:p.Glu4549Ala
XM_011538773.1:c.13643A>C	XP_011537075.1:p.Glu4548Ala
XM_011538774.1:c.13634A>C	XP_011537076.1:p.Glu4545Ala
XM_011538775.1:c.13655A>C	XP_011537077.1:p.Glu4552Ala
XM_011538776.1:c.13562A>C	XP_011537078.1:p.Glu4521Ala
XR_944740.1:n.15975A>C
XM_005269162.4:c.13646A>C	XP_005269219.1:p.Glu4549Ala
XM_006719614.4:c.13655A>C	XP_006719677.1:p.Glu4552Ala
XM_006719616.3:c.13643A>C	XP_006719679.1:p.Glu4548Ala
XM_011538770.2:c.13655A>C	XP_011537072.1:p.Glu4552Ala
XM_011538771.2:c.13652A>C	XP_011537073.1:p.Glu4551Ala
XM_011538772.2:c.13646A>C	XP_011537074.1:p.Glu4549Ala
XM_011538773.2:c.13643A>C	XP_011537075.1:p.Glu4548Ala
XM_011538774.2:c.13634A>C	XP_011537076.1:p.Glu4545Ala
XM_011538776.2:c.13562A>C	XP_011537078.1:p.Glu4521Ala
XR_001748874.1:n.14964A>C
NM_003482.4:c.13646A>C MANE Select	NP_003473.3:p.Glu4549Ala