Canonical Allele Identifier: CA645594484
Community Standard Title: NM_003482.4(KMT2D):c.14000-3C>G
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49029479G>C , CM000674.2:g.49029479G>C GRCh38
NC_000012.11:g.49423262G>C , CM000674.1:g.49423262G>C GRCh37
NC_000012.10:g.47709529G>C NCBI36
NG_027827.1:g.30846C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14000-3C>G MANE Select NP_003473.3:n.14000-3C>G
ENST00000301067.12:c.14000-3C>G MANE Select ENSP00000301067.7:n.14000-3C>G
NM_003482.3:c.14000-3C>G NP_003473.3:n.14000-3C>G
ENST00000301067.11:c.14000-3C>G ENSP00000301067.7:n.14000-3C>G
ENST00000552391.2:n.861-3C>G
ENST00000683543.2:c.14000-3C>G ENSP00000506726.1:n.14000-3C>G
ENST00000685166.1:c.14009-3C>G ENSP00000509386.1:n.14009-3C>G
ENST00000685979.1:c.263-3C>G ENSP00000508906.1:n.263-3C>G
ENST00000686564.1:c.260-3C>G ENSP00000509290.1:n.260-3C>G
ENST00000687241.1:c.92-3C>G ENSP00000509842.1:n.92-3C>G
ENST00000691986.1:c.299-3C>G ENSP00000509196.1:n.299-3C>G
ENST00000692637.1:c.13997-3C>G ENSP00000509666.1:n.13997-3C>G
XM_005269162.3:c.14000-3C>G XP_005269219.1:n.14000-3C>G
XM_005269162.4:c.14000-3C>G XP_005269219.1:n.14000-3C>G
XM_006719614.2:c.14009-3C>G XP_006719677.1:n.14009-3C>G
XM_006719614.4:c.14009-3C>G XP_006719677.1:n.14009-3C>G
XM_006719616.2:c.13997-3C>G XP_006719679.1:n.13997-3C>G
XM_006719616.3:c.13997-3C>G XP_006719679.1:n.13997-3C>G
XM_011538770.1:c.14009-3C>G XP_011537072.1:n.14009-3C>G
XM_011538770.2:c.14009-3C>G XP_011537072.1:n.14009-3C>G
XM_011538771.1:c.14006-3C>G XP_011537073.1:n.14006-3C>G
XM_011538771.2:c.14006-3C>G XP_011537073.1:n.14006-3C>G
XM_011538772.1:c.14000-3C>G XP_011537074.1:n.14000-3C>G
XM_011538772.2:c.14000-3C>G XP_011537074.1:n.14000-3C>G
XM_011538773.1:c.13997-3C>G XP_011537075.1:n.13997-3C>G
XM_011538773.2:c.13997-3C>G XP_011537075.1:n.13997-3C>G
XM_011538774.1:c.13988-3C>G XP_011537076.1:n.13988-3C>G
XM_011538774.2:c.13988-3C>G XP_011537076.1:n.13988-3C>G
XM_011538775.1:c.13943-3C>G XP_011537077.1:n.13943-3C>G
XM_011538776.1:c.13916-3C>G XP_011537078.1:n.13916-3C>G
XM_011538776.2:c.13916-3C>G XP_011537078.1:n.13916-3C>G
XR_001748874.1:n.15318-3C>G
XR_944740.1:n.16329-3C>G