Canonical Allele Identifier: CA16042799

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 373023
• ClinVar RCV Id: RCV000414121
• dbSNP Id: rs1057518149
• gnomAD v4: 12-49039221-C-T
• COSMIC: COSM221112 ; COSM221113
• MyVariant Identifiers: chr12:g.49433004C>T (hg19) ; chr12:g.49039221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039221C>T , CM000674.2:g.49039221C>T	GRCh38
NC_000012.11:g.49433004C>T , CM000674.1:g.49433004C>T	GRCh37
NC_000012.10:g.47719271C>T	NCBI36
NG_027827.1:g.21104G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683043.1:n.65+1G>A
ENST00000683543.2:c.8366+1G>A	ENSP00000506726.1:n.8366+1G>A
ENST00000685166.1:c.8375+1G>A	ENSP00000509386.1:n.8375+1G>A
ENST00000689143.1:c.2039+1G>A	ENSP00000509839.1:n.2039+1G>A
ENST00000692637.1:c.8363+1G>A	ENSP00000509666.1:n.8363+1G>A
ENST00000301067.12:c.8366+1G>A MANE Select	ENSP00000301067.7:n.8366+1G>A
ENST00000301067.11:c.8366+1G>A	ENSP00000301067.7:n.8366+1G>A
ENST00000549799.1:n.78+1G>A
NM_003482.3:c.8366+1G>A	NP_003473.3:n.8366+1G>A
XM_005269162.3:c.8366+1G>A	XP_005269219.1:n.8366+1G>A
XM_006719614.2:c.8375+1G>A	XP_006719677.1:n.8375+1G>A
XM_006719616.2:c.8363+1G>A	XP_006719679.1:n.8363+1G>A
XM_011538770.1:c.8375+1G>A	XP_011537072.1:n.8375+1G>A
XM_011538771.1:c.8372+1G>A	XP_011537073.1:n.8372+1G>A
XM_011538772.1:c.8366+1G>A	XP_011537074.1:n.8366+1G>A
XM_011538773.1:c.8363+1G>A	XP_011537075.1:n.8363+1G>A
XM_011538774.1:c.8354+1G>A	XP_011537076.1:n.8354+1G>A
XM_011538775.1:c.8375+1G>A	XP_011537077.1:n.8375+1G>A
XM_011538776.1:c.8282+1G>A	XP_011537078.1:n.8282+1G>A
XR_944740.1:n.10695+1G>A
XM_005269162.4:c.8366+1G>A	XP_005269219.1:n.8366+1G>A
XM_006719614.4:c.8375+1G>A	XP_006719677.1:n.8375+1G>A
XM_006719616.3:c.8363+1G>A	XP_006719679.1:n.8363+1G>A
XM_011538770.2:c.8375+1G>A	XP_011537072.1:n.8375+1G>A
XM_011538771.2:c.8372+1G>A	XP_011537073.1:n.8372+1G>A
XM_011538772.2:c.8366+1G>A	XP_011537074.1:n.8366+1G>A
XM_011538773.2:c.8363+1G>A	XP_011537075.1:n.8363+1G>A
XM_011538774.2:c.8354+1G>A	XP_011537076.1:n.8354+1G>A
XM_011538776.2:c.8282+1G>A	XP_011537078.1:n.8282+1G>A
XR_001748874.1:n.9684+1G>A
NM_003482.4:c.8366+1G>A MANE Select	NP_003473.3:n.8366+1G>A