Canonical Allele Identifier: CA6546701
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 500417
dbSNP Id: rs200089754

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49037971G>A , CM000674.2:g.49037971G>A GRCh38
NC_000012.11:g.49431754G>A , CM000674.1:g.49431754G>A GRCh37
NC_000012.10:g.47718021G>A NCBI36
NG_027827.1:g.22354C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683043.1:n.1084C>T
ENST00000683543.2:c.9385C>T ENSP00000506726.1:p.Pro3129Ser
ENST00000685166.1:c.9394C>T ENSP00000509386.1:p.Pro3132Ser
ENST00000687201.1:c.949C>T ENSP00000510037.1:p.Pro317Ser
ENST00000689143.1:c.2988C>T ENSP00000509839.1:n.2988C>T
ENST00000692637.1:c.9382C>T ENSP00000509666.1:p.Pro3128Ser
ENST00000692841.1:c.949C>T ENSP00000508711.1:p.Pro317Ser
ENST00000301067.12:c.9385C>T MANE Select ENSP00000301067.7:p.Pro3129Ser
ENST00000301067.11:c.9385C>T ENSP00000301067.7:p.Pro3129Ser
NM_003482.3:c.9385C>T NP_003473.3:p.Pro3129Ser
XM_005269162.3:c.9385C>T XP_005269219.1:p.Pro3129Ser
XM_006719614.2:c.9394C>T XP_006719677.1:p.Pro3132Ser
XM_006719616.2:c.9382C>T XP_006719679.1:p.Pro3128Ser
XM_011538770.1:c.9394C>T XP_011537072.1:p.Pro3132Ser
XM_011538771.1:c.9391C>T XP_011537073.1:p.Pro3131Ser
XM_011538772.1:c.9385C>T XP_011537074.1:p.Pro3129Ser
XM_011538773.1:c.9382C>T XP_011537075.1:p.Pro3128Ser
XM_011538774.1:c.9373C>T XP_011537076.1:p.Pro3125Ser
XM_011538775.1:c.9394C>T XP_011537077.1:p.Pro3132Ser
XM_011538776.1:c.9301C>T XP_011537078.1:p.Pro3101Ser
XR_944740.1:n.11714C>T
XM_005269162.4:c.9385C>T XP_005269219.1:p.Pro3129Ser
XM_006719614.4:c.9394C>T XP_006719677.1:p.Pro3132Ser
XM_006719616.3:c.9382C>T XP_006719679.1:p.Pro3128Ser
XM_011538770.2:c.9394C>T XP_011537072.1:p.Pro3132Ser
XM_011538771.2:c.9391C>T XP_011537073.1:p.Pro3131Ser
XM_011538772.2:c.9385C>T XP_011537074.1:p.Pro3129Ser
XM_011538773.2:c.9382C>T XP_011537075.1:p.Pro3128Ser
XM_011538774.2:c.9373C>T XP_011537076.1:p.Pro3125Ser
XM_011538776.2:c.9301C>T XP_011537078.1:p.Pro3101Ser
XR_001748874.1:n.10703C>T
NM_003482.4:c.9385C>T MANE Select NP_003473.3:p.Pro3129Ser