Canonical Allele Identifier: CA658658150
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 463009
dbSNP Id: rs1555186093

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49027325G>C , CM000674.2:g.49027325G>C GRCh38
NC_000012.11:g.49421108G>C , CM000674.1:g.49421108G>C GRCh37
NC_000012.10:g.47707375G>C NCBI36
NG_027827.1:g.33000C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.14644-3C>G ENSP00000506726.1:n.14644-3C>G
ENST00000685166.1:c.14653-3C>G ENSP00000509386.1:n.14653-3C>G
ENST00000686151.1:n.219-3C>G
ENST00000688411.1:c.261+478C>G ENSP00000510146.1:n.261+478C>G
ENST00000691463.1:c.262-235C>G ENSP00000510624.1:n.262-235C>G
ENST00000692637.1:c.14641-3C>G ENSP00000509666.1:n.14641-3C>G
ENST00000301067.12:c.14644-3C>G MANE Select ENSP00000301067.7:n.14644-3C>G
ENST00000301067.11:c.14644-3C>G ENSP00000301067.7:n.14644-3C>G
NM_003482.3:c.14644-3C>G NP_003473.3:n.14644-3C>G
XM_005269162.3:c.14644-3C>G XP_005269219.1:n.14644-3C>G
XM_006719614.2:c.14653-3C>G XP_006719677.1:n.14653-3C>G
XM_006719616.2:c.14641-3C>G XP_006719679.1:n.14641-3C>G
XM_011538770.1:c.14653-3C>G XP_011537072.1:n.14653-3C>G
XM_011538771.1:c.14650-3C>G XP_011537073.1:n.14650-3C>G
XM_011538772.1:c.14644-3C>G XP_011537074.1:n.14644-3C>G
XM_011538773.1:c.14641-3C>G XP_011537075.1:n.14641-3C>G
XM_011538774.1:c.14632-3C>G XP_011537076.1:n.14632-3C>G
XM_011538775.1:c.14587-3C>G XP_011537077.1:n.14587-3C>G
XM_011538776.1:c.14560-3C>G XP_011537078.1:n.14560-3C>G
XR_944740.1:n.16972+478C>G
XM_005269162.4:c.14644-3C>G XP_005269219.1:n.14644-3C>G
XM_006719614.4:c.14653-3C>G XP_006719677.1:n.14653-3C>G
XM_006719616.3:c.14641-3C>G XP_006719679.1:n.14641-3C>G
XM_011538770.2:c.14653-3C>G XP_011537072.1:n.14653-3C>G
XM_011538771.2:c.14650-3C>G XP_011537073.1:n.14650-3C>G
XM_011538772.2:c.14644-3C>G XP_011537074.1:n.14644-3C>G
XM_011538773.2:c.14641-3C>G XP_011537075.1:n.14641-3C>G
XM_011538774.2:c.14632-3C>G XP_011537076.1:n.14632-3C>G
XM_011538776.2:c.14560-3C>G XP_011537078.1:n.14560-3C>G
XR_001748874.1:n.15961+478C>G
NM_003482.4:c.14644-3C>G MANE Select NP_003473.3:n.14644-3C>G