Canonical Allele Identifier: CA147669
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94165
dbSNP Id: rs181733689

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031660G>C , CM000674.2:g.49031660G>C GRCh38
NC_000012.11:g.49425443G>C , CM000674.1:g.49425443G>C GRCh37
NC_000012.10:g.47711710G>C NCBI36
NG_027827.1:g.28665C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.13045C>G ENSP00000506726.1:p.Pro4349Ala
ENST00000685166.1:c.13054C>G ENSP00000509386.1:p.Pro4352Ala
ENST00000685554.1:c.1753-348C>G ENSP00000508640.1:n.1753-348C>G
ENST00000692637.1:c.13042C>G ENSP00000509666.1:p.Pro4348Ala
ENST00000692841.1:c.4524C>G ENSP00000508711.1:n.4524C>G
ENST00000301067.12:c.13045C>G MANE Select ENSP00000301067.7:p.Pro4349Ala
ENST00000301067.11:c.13045C>G ENSP00000301067.7:p.Pro4349Ala
NM_003482.3:c.13045C>G NP_003473.3:p.Pro4349Ala
XM_005269162.3:c.13045C>G XP_005269219.1:p.Pro4349Ala
XM_006719614.2:c.13054C>G XP_006719677.1:p.Pro4352Ala
XM_006719616.2:c.13042C>G XP_006719679.1:p.Pro4348Ala
XM_011538770.1:c.13054C>G XP_011537072.1:p.Pro4352Ala
XM_011538771.1:c.13051C>G XP_011537073.1:p.Pro4351Ala
XM_011538772.1:c.13045C>G XP_011537074.1:p.Pro4349Ala
XM_011538773.1:c.13042C>G XP_011537075.1:p.Pro4348Ala
XM_011538774.1:c.13033C>G XP_011537076.1:p.Pro4345Ala
XM_011538775.1:c.13054C>G XP_011537077.1:p.Pro4352Ala
XM_011538776.1:c.12961C>G XP_011537078.1:p.Pro4321Ala
XR_944740.1:n.15374C>G
XM_005269162.4:c.13045C>G XP_005269219.1:p.Pro4349Ala
XM_006719614.4:c.13054C>G XP_006719677.1:p.Pro4352Ala
XM_006719616.3:c.13042C>G XP_006719679.1:p.Pro4348Ala
XM_011538770.2:c.13054C>G XP_011537072.1:p.Pro4352Ala
XM_011538771.2:c.13051C>G XP_011537073.1:p.Pro4351Ala
XM_011538772.2:c.13045C>G XP_011537074.1:p.Pro4349Ala
XM_011538773.2:c.13042C>G XP_011537075.1:p.Pro4348Ala
XM_011538774.2:c.13033C>G XP_011537076.1:p.Pro4345Ala
XM_011538776.2:c.12961C>G XP_011537078.1:p.Pro4321Ala
XR_001748874.1:n.14363C>G
NM_003482.4:c.13045C>G MANE Select NP_003473.3:p.Pro4349Ala