Canonical Allele Identifier: CA221990
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94146
dbSNP Id: rs398123704

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49033556G>A , CM000674.2:g.49033556G>A GRCh38
NC_000012.11:g.49427339G>A , CM000674.1:g.49427339G>A GRCh37
NC_000012.10:g.47713606G>A NCBI36
NG_027827.1:g.26769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.11149C>T ENSP00000506726.1:p.Gln3717Ter
ENST00000685166.1:c.11158C>T ENSP00000509386.1:p.Gln3720Ter
ENST00000685554.1:c.709C>T ENSP00000508640.1:p.Gln237Ter
ENST00000687201.1:c.2728C>T ENSP00000510037.1:p.Gln910Ter
ENST00000692637.1:c.11146C>T ENSP00000509666.1:p.Gln3716Ter
ENST00000692841.1:c.2628C>T ENSP00000508711.1:n.2628C>T
ENST00000301067.12:c.11149C>T MANE Select ENSP00000301067.7:p.Gln3717Ter
ENST00000301067.11:c.11149C>T ENSP00000301067.7:p.Gln3717Ter
NM_003482.3:c.11149C>T NP_003473.3:p.Gln3717Ter
XM_005269162.3:c.11149C>T XP_005269219.1:p.Gln3717Ter
XM_006719614.2:c.11158C>T XP_006719677.1:p.Gln3720Ter
XM_006719616.2:c.11146C>T XP_006719679.1:p.Gln3716Ter
XM_011538770.1:c.11158C>T XP_011537072.1:p.Gln3720Ter
XM_011538771.1:c.11155C>T XP_011537073.1:p.Gln3719Ter
XM_011538772.1:c.11149C>T XP_011537074.1:p.Gln3717Ter
XM_011538773.1:c.11146C>T XP_011537075.1:p.Gln3716Ter
XM_011538774.1:c.11137C>T XP_011537076.1:p.Gln3713Ter
XM_011538775.1:c.11158C>T XP_011537077.1:p.Gln3720Ter
XM_011538776.1:c.11065C>T XP_011537078.1:p.Gln3689Ter
XR_944740.1:n.13478C>T
XM_005269162.4:c.11149C>T XP_005269219.1:p.Gln3717Ter
XM_006719614.4:c.11158C>T XP_006719677.1:p.Gln3720Ter
XM_006719616.3:c.11146C>T XP_006719679.1:p.Gln3716Ter
XM_011538770.2:c.11158C>T XP_011537072.1:p.Gln3720Ter
XM_011538771.2:c.11155C>T XP_011537073.1:p.Gln3719Ter
XM_011538772.2:c.11149C>T XP_011537074.1:p.Gln3717Ter
XM_011538773.2:c.11146C>T XP_011537075.1:p.Gln3716Ter
XM_011538774.2:c.11137C>T XP_011537076.1:p.Gln3713Ter
XM_011538776.2:c.11065C>T XP_011537078.1:p.Gln3689Ter
XR_001748874.1:n.12467C>T
NM_003482.4:c.11149C>T MANE Select NP_003473.3:p.Gln3717Ter