Canonical Allele Identifier: CA384691565
Community Standard Title: NM_003482.4(KMT2D):c.14839C>T (p.Pro4947Ser)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49027127G>A , CM000674.2:g.49027127G>A GRCh38
NC_000012.11:g.49420910G>A , CM000674.1:g.49420910G>A GRCh37
NC_000012.10:g.47707177G>A NCBI36
NG_027827.1:g.33198C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14839C>T MANE Select NP_003473.3:p.Pro4947Ser
ENST00000301067.12:c.14839C>T MANE Select ENSP00000301067.7:p.Pro4947Ser
NM_003482.3:c.14839C>T NP_003473.3:p.Pro4947Ser
ENST00000301067.11:c.14839C>T ENSP00000301067.7:p.Pro4947Ser
ENST00000683543.2:c.14839C>T ENSP00000506726.1:p.Pro4947Ser
ENST00000685166.1:c.14848C>T ENSP00000509386.1:p.Pro4950Ser
ENST00000688411.1:c.261+676C>T ENSP00000510146.1:n.261+676C>T
ENST00000691463.1:c.262-37C>T ENSP00000510624.1:n.262-37C>T
ENST00000692637.1:c.14836C>T ENSP00000509666.1:p.Pro4946Ser
XM_005269162.3:c.14839C>T XP_005269219.1:p.Pro4947Ser
XM_005269162.4:c.14839C>T XP_005269219.1:p.Pro4947Ser
XM_006719614.2:c.14848C>T XP_006719677.1:p.Pro4950Ser
XM_006719614.4:c.14848C>T XP_006719677.1:p.Pro4950Ser
XM_006719616.2:c.14836C>T XP_006719679.1:p.Pro4946Ser
XM_006719616.3:c.14836C>T XP_006719679.1:p.Pro4946Ser
XM_011538770.1:c.14848C>T XP_011537072.1:p.Pro4950Ser
XM_011538770.2:c.14848C>T XP_011537072.1:p.Pro4950Ser
XM_011538771.1:c.14845C>T XP_011537073.1:p.Pro4949Ser
XM_011538771.2:c.14845C>T XP_011537073.1:p.Pro4949Ser
XM_011538772.1:c.14839C>T XP_011537074.1:p.Pro4947Ser
XM_011538772.2:c.14839C>T XP_011537074.1:p.Pro4947Ser
XM_011538773.1:c.14836C>T XP_011537075.1:p.Pro4946Ser
XM_011538773.2:c.14836C>T XP_011537075.1:p.Pro4946Ser
XM_011538774.1:c.14827C>T XP_011537076.1:p.Pro4943Ser
XM_011538774.2:c.14827C>T XP_011537076.1:p.Pro4943Ser
XM_011538775.1:c.14782C>T XP_011537077.1:p.Pro4928Ser
XM_011538776.1:c.14755C>T XP_011537078.1:p.Pro4919Ser
XM_011538776.2:c.14755C>T XP_011537078.1:p.Pro4919Ser
XR_001748874.1:n.15961+676C>T
XR_944740.1:n.16972+676C>T