Canonical Allele Identifier: CA10654764

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 369674
• ClinVar RCV Id: RCV000408635 ; RCV002523836 ; RCV002524612
• dbSNP Id: rs1057516039
• MyVariant Identifiers: chr12:g.49423183C>T (hg19) ; chr12:g.49029400C>T (hg38)
• PubMed: PMID:26938784

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49029400C>T , CM000674.2:g.49029400C>T	GRCh38
NC_000012.11:g.49423183C>T , CM000674.1:g.49423183C>T	GRCh37
NC_000012.10:g.47709450C>T	NCBI36
NG_027827.1:g.30925G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.14075+1G>A	ENSP00000506726.1:n.14075+1G>A
ENST00000685166.1:c.14084+1G>A	ENSP00000509386.1:n.14084+1G>A
ENST00000685979.1:c.338+1G>A	ENSP00000508906.1:n.338+1G>A
ENST00000686564.1:c.335+1G>A	ENSP00000509290.1:n.335+1G>A
ENST00000687241.1:c.167+1G>A	ENSP00000509842.1:n.167+1G>A
ENST00000691986.1:c.374+1G>A	ENSP00000509196.1:n.374+1G>A
ENST00000692637.1:c.14072+1G>A	ENSP00000509666.1:n.14072+1G>A
ENST00000301067.12:c.14075+1G>A MANE Select	ENSP00000301067.7:n.14075+1G>A
ENST00000301067.11:c.14075+1G>A	ENSP00000301067.7:n.14075+1G>A
NM_003482.3:c.14075+1G>A	NP_003473.3:n.14075+1G>A
XM_005269162.3:c.14075+1G>A	XP_005269219.1:n.14075+1G>A
XM_006719614.2:c.14084+1G>A	XP_006719677.1:n.14084+1G>A
XM_006719616.2:c.14072+1G>A	XP_006719679.1:n.14072+1G>A
XM_011538770.1:c.14084+1G>A	XP_011537072.1:n.14084+1G>A
XM_011538771.1:c.14081+1G>A	XP_011537073.1:n.14081+1G>A
XM_011538772.1:c.14075+1G>A	XP_011537074.1:n.14075+1G>A
XM_011538773.1:c.14072+1G>A	XP_011537075.1:n.14072+1G>A
XM_011538774.1:c.14063+1G>A	XP_011537076.1:n.14063+1G>A
XM_011538775.1:c.14018+1G>A	XP_011537077.1:n.14018+1G>A
XM_011538776.1:c.13991+1G>A	XP_011537078.1:n.13991+1G>A
XR_944740.1:n.16404+1G>A
XM_005269162.4:c.14075+1G>A	XP_005269219.1:n.14075+1G>A
XM_006719614.4:c.14084+1G>A	XP_006719677.1:n.14084+1G>A
XM_006719616.3:c.14072+1G>A	XP_006719679.1:n.14072+1G>A
XM_011538770.2:c.14084+1G>A	XP_011537072.1:n.14084+1G>A
XM_011538771.2:c.14081+1G>A	XP_011537073.1:n.14081+1G>A
XM_011538772.2:c.14075+1G>A	XP_011537074.1:n.14075+1G>A
XM_011538773.2:c.14072+1G>A	XP_011537075.1:n.14072+1G>A
XM_011538774.2:c.14063+1G>A	XP_011537076.1:n.14063+1G>A
XM_011538776.2:c.13991+1G>A	XP_011537078.1:n.13991+1G>A
XR_001748874.1:n.15393+1G>A
NM_003482.4:c.14075+1G>A MANE Select	NP_003473.3:n.14075+1G>A