Canonical Allele Identifier: CA384699843
Community Standard Title: NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49029470G>C , CM000674.2:g.49029470G>C GRCh38
NC_000012.11:g.49423253G>C , CM000674.1:g.49423253G>C GRCh37
NC_000012.10:g.47709520G>C NCBI36
NG_027827.1:g.30855C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14006C>G MANE Select NP_003473.3:p.Ser4669Ter
ENST00000301067.12:c.14006C>G MANE Select ENSP00000301067.7:p.Ser4669Ter
NM_003482.3:c.14006C>G NP_003473.3:p.Ser4669Ter
ENST00000301067.11:c.14006C>G ENSP00000301067.7:p.Ser4669Ter
ENST00000552391.2:n.867C>G
ENST00000683543.2:c.14006C>G ENSP00000506726.1:p.Ser4669Ter
ENST00000685166.1:c.14015C>G ENSP00000509386.1:p.Ser4672Ter
ENST00000685979.1:c.269C>G ENSP00000508906.1:p.Ser90Ter
ENST00000686564.1:c.266C>G ENSP00000509290.1:p.Ser89Ter
ENST00000687241.1:c.98C>G ENSP00000509842.1:p.Ser33Ter
ENST00000691986.1:c.305C>G ENSP00000509196.1:p.Ser102Ter
ENST00000692637.1:c.14003C>G ENSP00000509666.1:p.Ser4668Ter
XM_005269162.3:c.14006C>G XP_005269219.1:p.Ser4669Ter
XM_005269162.4:c.14006C>G XP_005269219.1:p.Ser4669Ter
XM_006719614.2:c.14015C>G XP_006719677.1:p.Ser4672Ter
XM_006719614.4:c.14015C>G XP_006719677.1:p.Ser4672Ter
XM_006719616.2:c.14003C>G XP_006719679.1:p.Ser4668Ter
XM_006719616.3:c.14003C>G XP_006719679.1:p.Ser4668Ter
XM_011538770.1:c.14015C>G XP_011537072.1:p.Ser4672Ter
XM_011538770.2:c.14015C>G XP_011537072.1:p.Ser4672Ter
XM_011538771.1:c.14012C>G XP_011537073.1:p.Ser4671Ter
XM_011538771.2:c.14012C>G XP_011537073.1:p.Ser4671Ter
XM_011538772.1:c.14006C>G XP_011537074.1:p.Ser4669Ter
XM_011538772.2:c.14006C>G XP_011537074.1:p.Ser4669Ter
XM_011538773.1:c.14003C>G XP_011537075.1:p.Ser4668Ter
XM_011538773.2:c.14003C>G XP_011537075.1:p.Ser4668Ter
XM_011538774.1:c.13994C>G XP_011537076.1:p.Ser4665Ter
XM_011538774.2:c.13994C>G XP_011537076.1:p.Ser4665Ter
XM_011538775.1:c.13949C>G XP_011537077.1:p.Ser4650Ter
XM_011538776.1:c.13922C>G XP_011537078.1:p.Ser4641Ter
XM_011538776.2:c.13922C>G XP_011537078.1:p.Ser4641Ter
XR_001748874.1:n.15324C>G
XR_944740.1:n.16335C>G