Canonical Allele Identifier: CA384737729
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs770522446

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49037882C>A , CM000674.2:g.49037882C>A GRCh38
NC_000012.11:g.49431665C>A , CM000674.1:g.49431665C>A GRCh37
NC_000012.10:g.47717932C>A NCBI36
NG_027827.1:g.22443G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683043.1:n.1173G>T
ENST00000683543.2:c.9474G>T ENSP00000506726.1:p.Gln3158His
ENST00000685166.1:c.9483G>T ENSP00000509386.1:p.Gln3161His
ENST00000687201.1:c.1038G>T ENSP00000510037.1:p.Gln346His
ENST00000689143.1:c.3077G>T ENSP00000509839.1:n.3077G>T
ENST00000692637.1:c.9471G>T ENSP00000509666.1:p.Gln3157His
ENST00000692841.1:c.1038G>T ENSP00000508711.1:p.Gln346His
ENST00000301067.12:c.9474G>T MANE Select ENSP00000301067.7:p.Gln3158His
ENST00000301067.11:c.9474G>T ENSP00000301067.7:p.Gln3158His
NM_003482.3:c.9474G>T NP_003473.3:p.Gln3158His
XM_005269162.3:c.9474G>T XP_005269219.1:p.Gln3158His
XM_006719614.2:c.9483G>T XP_006719677.1:p.Gln3161His
XM_006719616.2:c.9471G>T XP_006719679.1:p.Gln3157His
XM_011538770.1:c.9483G>T XP_011537072.1:p.Gln3161His
XM_011538771.1:c.9480G>T XP_011537073.1:p.Gln3160His
XM_011538772.1:c.9474G>T XP_011537074.1:p.Gln3158His
XM_011538773.1:c.9471G>T XP_011537075.1:p.Gln3157His
XM_011538774.1:c.9462G>T XP_011537076.1:p.Gln3154His
XM_011538775.1:c.9483G>T XP_011537077.1:p.Gln3161His
XM_011538776.1:c.9390G>T XP_011537078.1:p.Gln3130His
XR_944740.1:n.11803G>T
XM_005269162.4:c.9474G>T XP_005269219.1:p.Gln3158His
XM_006719614.4:c.9483G>T XP_006719677.1:p.Gln3161His
XM_006719616.3:c.9471G>T XP_006719679.1:p.Gln3157His
XM_011538770.2:c.9483G>T XP_011537072.1:p.Gln3161His
XM_011538771.2:c.9480G>T XP_011537073.1:p.Gln3160His
XM_011538772.2:c.9474G>T XP_011537074.1:p.Gln3158His
XM_011538773.2:c.9471G>T XP_011537075.1:p.Gln3157His
XM_011538774.2:c.9462G>T XP_011537076.1:p.Gln3154His
XM_011538776.2:c.9390G>T XP_011537078.1:p.Gln3130His
XR_001748874.1:n.10792G>T
NM_003482.4:c.9474G>T MANE Select NP_003473.3:p.Gln3158His