Canonical Allele Identifier: CA236638206
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1523826
ClinVar RCV Id: RCV002039170
dbSNP Id: rs935977103

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031000G>A , CM000674.2:g.49031000G>A GRCh38
NC_000012.11:g.49424783G>A , CM000674.1:g.49424783G>A GRCh37
NC_000012.10:g.47711050G>A NCBI36
NG_027827.1:g.29325C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000552391.2:n.264C>T
ENST00000683543.2:c.13564C>T ENSP00000506726.1:p.Pro4522Ser
ENST00000685166.1:c.13573C>T ENSP00000509386.1:p.Pro4525Ser
ENST00000685982.1:c.138+175C>T ENSP00000508613.1:n.138+175C>T
ENST00000691986.1:c.138+175C>T ENSP00000509196.1:n.138+175C>T
ENST00000692637.1:c.13561C>T ENSP00000509666.1:p.Pro4521Ser
ENST00000692973.1:c.165C>T ENSP00000508893.1:n.165C>T
ENST00000301067.12:c.13564C>T MANE Select ENSP00000301067.7:p.Pro4522Ser
ENST00000301067.11:c.13564C>T ENSP00000301067.7:p.Pro4522Ser
ENST00000552391.1:n.264C>T
NM_003482.3:c.13564C>T NP_003473.3:p.Pro4522Ser
XM_005269162.3:c.13564C>T XP_005269219.1:p.Pro4522Ser
XM_006719614.2:c.13573C>T XP_006719677.1:p.Pro4525Ser
XM_006719616.2:c.13561C>T XP_006719679.1:p.Pro4521Ser
XM_011538770.1:c.13573C>T XP_011537072.1:p.Pro4525Ser
XM_011538771.1:c.13570C>T XP_011537073.1:p.Pro4524Ser
XM_011538772.1:c.13564C>T XP_011537074.1:p.Pro4522Ser
XM_011538773.1:c.13561C>T XP_011537075.1:p.Pro4521Ser
XM_011538774.1:c.13552C>T XP_011537076.1:p.Pro4518Ser
XM_011538775.1:c.13573C>T XP_011537077.1:p.Pro4525Ser
XM_011538776.1:c.13480C>T XP_011537078.1:p.Pro4494Ser
XR_944740.1:n.15893C>T
XM_005269162.4:c.13564C>T XP_005269219.1:p.Pro4522Ser
XM_006719614.4:c.13573C>T XP_006719677.1:p.Pro4525Ser
XM_006719616.3:c.13561C>T XP_006719679.1:p.Pro4521Ser
XM_011538770.2:c.13573C>T XP_011537072.1:p.Pro4525Ser
XM_011538771.2:c.13570C>T XP_011537073.1:p.Pro4524Ser
XM_011538772.2:c.13564C>T XP_011537074.1:p.Pro4522Ser
XM_011538773.2:c.13561C>T XP_011537075.1:p.Pro4521Ser
XM_011538774.2:c.13552C>T XP_011537076.1:p.Pro4518Ser
XM_011538776.2:c.13480C>T XP_011537078.1:p.Pro4494Ser
XR_001748874.1:n.14882C>T
NM_003482.4:c.13564C>T MANE Select NP_003473.3:p.Pro4522Ser