Canonical Allele Identifier: CA6545974

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2703822
• ClinVar RCV Id: RCV003589771 ; RCV004536832
• dbSNP Id: rs778634045
• ExAC: 12:49424777 G / A
• gnomAD v2: 12-49424777-G-A
• gnomAD v3: 12-49030994-G-A
• gnomAD v4: 12-49030994-G-A
• COSMIC: COSM5108713
• MyVariant Identifiers: chr12:g.49424777G>A (hg19) ; chr12:g.49030994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030994G>A , CM000674.2:g.49030994G>A	GRCh38
NC_000012.11:g.49424777G>A , CM000674.1:g.49424777G>A	GRCh37
NC_000012.10:g.47711044G>A	NCBI36
NG_027827.1:g.29331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.270C>T
ENST00000683543.2:c.13570C>T	ENSP00000506726.1:p.Arg4524Trp
ENST00000685166.1:c.13579C>T	ENSP00000509386.1:p.Arg4527Trp
ENST00000685982.1:c.138+181C>T	ENSP00000508613.1:n.138+181C>T
ENST00000691986.1:c.138+181C>T	ENSP00000509196.1:n.138+181C>T
ENST00000692637.1:c.13567C>T	ENSP00000509666.1:p.Arg4523Trp
ENST00000692973.1:c.171C>T	ENSP00000508893.1:n.171C>T
ENST00000301067.12:c.13570C>T MANE Select	ENSP00000301067.7:p.Arg4524Trp
ENST00000301067.11:c.13570C>T	ENSP00000301067.7:p.Arg4524Trp
ENST00000552391.1:n.270C>T
NM_003482.3:c.13570C>T	NP_003473.3:p.Arg4524Trp
XM_005269162.3:c.13570C>T	XP_005269219.1:p.Arg4524Trp
XM_006719614.2:c.13579C>T	XP_006719677.1:p.Arg4527Trp
XM_006719616.2:c.13567C>T	XP_006719679.1:p.Arg4523Trp
XM_011538770.1:c.13579C>T	XP_011537072.1:p.Arg4527Trp
XM_011538771.1:c.13576C>T	XP_011537073.1:p.Arg4526Trp
XM_011538772.1:c.13570C>T	XP_011537074.1:p.Arg4524Trp
XM_011538773.1:c.13567C>T	XP_011537075.1:p.Arg4523Trp
XM_011538774.1:c.13558C>T	XP_011537076.1:p.Arg4520Trp
XM_011538775.1:c.13579C>T	XP_011537077.1:p.Arg4527Trp
XM_011538776.1:c.13486C>T	XP_011537078.1:p.Arg4496Trp
XR_944740.1:n.15899C>T
XM_005269162.4:c.13570C>T	XP_005269219.1:p.Arg4524Trp
XM_006719614.4:c.13579C>T	XP_006719677.1:p.Arg4527Trp
XM_006719616.3:c.13567C>T	XP_006719679.1:p.Arg4523Trp
XM_011538770.2:c.13579C>T	XP_011537072.1:p.Arg4527Trp
XM_011538771.2:c.13576C>T	XP_011537073.1:p.Arg4526Trp
XM_011538772.2:c.13570C>T	XP_011537074.1:p.Arg4524Trp
XM_011538773.2:c.13567C>T	XP_011537075.1:p.Arg4523Trp
XM_011538774.2:c.13558C>T	XP_011537076.1:p.Arg4520Trp
XM_011538776.2:c.13486C>T	XP_011537078.1:p.Arg4496Trp
XR_001748874.1:n.14888C>T
NM_003482.4:c.13570C>T MANE Select	NP_003473.3:p.Arg4524Trp