Canonical Allele Identifier: CA271608
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 158740
ClinVar RCV Id: RCV000146181
dbSNP Id: rs587783699

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024687G>A , CM000674.2:g.49024687G>A GRCh38
NC_000012.11:g.49418470G>A , CM000674.1:g.49418470G>A GRCh37
NC_000012.10:g.47704737G>A NCBI36
NG_027827.1:g.35638C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.615C>T
ENST00000683543.2:c.15943C>T ENSP00000506726.1:p.Gln5315Ter
ENST00000683863.1:n.1658C>T
ENST00000684428.1:c.478C>T ENSP00000507433.1:p.Gln160Ter
ENST00000684755.1:n.478C>T
ENST00000685024.1:c.1097C>T
ENST00000685166.1:c.15952C>T ENSP00000509386.1:p.Gln5318Ter
ENST00000688411.1:c.420C>T ENSP00000510146.1:n.420C>T
ENST00000691932.1:c.22C>T ENSP00000509037.1:p.Gln8Ter
ENST00000692637.1:c.15940C>T ENSP00000509666.1:p.Gln5314Ter
ENST00000301067.12:c.15943C>T MANE Select ENSP00000301067.7:p.Gln5315Ter
ENST00000301067.11:c.15943C>T ENSP00000301067.7:p.Gln5315Ter
NM_003482.3:c.15943C>T NP_003473.3:p.Gln5315Ter
XM_005269162.3:c.15943C>T XP_005269219.1:p.Gln5315Ter
XM_006719614.2:c.15952C>T XP_006719677.1:p.Gln5318Ter
XM_006719616.2:c.15940C>T XP_006719679.1:p.Gln5314Ter
XM_011538770.1:c.15952C>T XP_011537072.1:p.Gln5318Ter
XM_011538771.1:c.15949C>T XP_011537073.1:p.Gln5317Ter
XM_011538772.1:c.15943C>T XP_011537074.1:p.Gln5315Ter
XM_011538773.1:c.15940C>T XP_011537075.1:p.Gln5314Ter
XM_011538774.1:c.15931C>T XP_011537076.1:p.Gln5311Ter
XM_011538775.1:c.15886C>T XP_011537077.1:p.Gln5296Ter
XM_011538776.1:c.15859C>T XP_011537078.1:p.Gln5287Ter
XM_005269162.4:c.15943C>T XP_005269219.1:p.Gln5315Ter
XM_006719614.4:c.15952C>T XP_006719677.1:p.Gln5318Ter
XM_006719616.3:c.15940C>T XP_006719679.1:p.Gln5314Ter
XM_011538770.2:c.15952C>T XP_011537072.1:p.Gln5318Ter
XM_011538771.2:c.15949C>T XP_011537073.1:p.Gln5317Ter
XM_011538772.2:c.15943C>T XP_011537074.1:p.Gln5315Ter
XM_011538773.2:c.15940C>T XP_011537075.1:p.Gln5314Ter
XM_011538774.2:c.15931C>T XP_011537076.1:p.Gln5311Ter
XM_011538776.2:c.15859C>T XP_011537078.1:p.Gln5287Ter
XR_001748874.1:n.16120C>T
NM_003482.4:c.15943C>T MANE Select NP_003473.3:p.Gln5315Ter