Canonical Allele Identifier: CA384713293
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 463003
ClinVar RCV Id: RCV000559586
dbSNP Id: rs188017299

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49032686G>A , CM000674.2:g.49032686G>A GRCh38
NC_000012.11:g.49426469G>A , CM000674.1:g.49426469G>A GRCh37
NC_000012.10:g.47712736G>A NCBI36
NG_027827.1:g.27639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.12019C>T ENSP00000506726.1:p.Gln4007Ter
ENST00000685166.1:c.12028C>T ENSP00000509386.1:p.Gln4010Ter
ENST00000685554.1:c.1579C>T ENSP00000508640.1:p.Gln527Ter
ENST00000687201.1:c.3598C>T ENSP00000510037.1:p.Gln1200Ter
ENST00000692637.1:c.12016C>T ENSP00000509666.1:p.Gln4006Ter
ENST00000692841.1:c.3498C>T ENSP00000508711.1:n.3498C>T
ENST00000301067.12:c.12019C>T MANE Select ENSP00000301067.7:p.Gln4007Ter
ENST00000301067.11:c.12019C>T ENSP00000301067.7:p.Gln4007Ter
NM_003482.3:c.12019C>T NP_003473.3:p.Gln4007Ter
XM_005269162.3:c.12019C>T XP_005269219.1:p.Gln4007Ter
XM_006719614.2:c.12028C>T XP_006719677.1:p.Gln4010Ter
XM_006719616.2:c.12016C>T XP_006719679.1:p.Gln4006Ter
XM_011538770.1:c.12028C>T XP_011537072.1:p.Gln4010Ter
XM_011538771.1:c.12025C>T XP_011537073.1:p.Gln4009Ter
XM_011538772.1:c.12019C>T XP_011537074.1:p.Gln4007Ter
XM_011538773.1:c.12016C>T XP_011537075.1:p.Gln4006Ter
XM_011538774.1:c.12007C>T XP_011537076.1:p.Gln4003Ter
XM_011538775.1:c.12028C>T XP_011537077.1:p.Gln4010Ter
XM_011538776.1:c.11935C>T XP_011537078.1:p.Gln3979Ter
XR_944740.1:n.14348C>T
XM_005269162.4:c.12019C>T XP_005269219.1:p.Gln4007Ter
XM_006719614.4:c.12028C>T XP_006719677.1:p.Gln4010Ter
XM_006719616.3:c.12016C>T XP_006719679.1:p.Gln4006Ter
XM_011538770.2:c.12028C>T XP_011537072.1:p.Gln4010Ter
XM_011538771.2:c.12025C>T XP_011537073.1:p.Gln4009Ter
XM_011538772.2:c.12019C>T XP_011537074.1:p.Gln4007Ter
XM_011538773.2:c.12016C>T XP_011537075.1:p.Gln4006Ter
XM_011538774.2:c.12007C>T XP_011537076.1:p.Gln4003Ter
XM_011538776.2:c.11935C>T XP_011537078.1:p.Gln3979Ter
XR_001748874.1:n.13337C>T
NM_003482.4:c.12019C>T MANE Select NP_003473.3:p.Gln4007Ter