Canonical Allele Identifier: CA384701547
Community Standard Title: NM_003482.4(KMT2D):c.13835C>G (p.Thr4612Ser)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030605G>C , CM000674.2:g.49030605G>C GRCh38
NC_000012.11:g.49424388G>C , CM000674.1:g.49424388G>C GRCh37
NC_000012.10:g.47710655G>C NCBI36
NG_027827.1:g.29720C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13835C>G MANE Select NP_003473.3:p.Thr4612Ser
ENST00000301067.12:c.13835C>G MANE Select ENSP00000301067.7:p.Thr4612Ser
NM_003482.3:c.13835C>G NP_003473.3:p.Thr4612Ser
ENST00000301067.11:c.13835C>G ENSP00000301067.7:p.Thr4612Ser
ENST00000552391.1:n.535C>G
ENST00000552391.2:n.535C>G
ENST00000683543.2:c.13835C>G ENSP00000506726.1:p.Thr4612Ser
ENST00000685166.1:c.13844C>G ENSP00000509386.1:p.Thr4615Ser
ENST00000685979.1:c.164C>G ENSP00000508906.1:p.Thr55Ser
ENST00000685982.1:c.302C>G ENSP00000508613.1:p.Thr101Ser
ENST00000686564.1:c.164C>G ENSP00000509290.1:p.Thr55Ser
ENST00000691986.1:c.139-166C>G ENSP00000509196.1:n.139-166C>G
ENST00000692637.1:c.13832C>G ENSP00000509666.1:p.Thr4611Ser
ENST00000692973.1:c.436C>G ENSP00000508893.1:n.436C>G
XM_005269162.3:c.13835C>G XP_005269219.1:p.Thr4612Ser
XM_005269162.4:c.13835C>G XP_005269219.1:p.Thr4612Ser
XM_006719614.2:c.13844C>G XP_006719677.1:p.Thr4615Ser
XM_006719614.4:c.13844C>G XP_006719677.1:p.Thr4615Ser
XM_006719616.2:c.13832C>G XP_006719679.1:p.Thr4611Ser
XM_006719616.3:c.13832C>G XP_006719679.1:p.Thr4611Ser
XM_011538770.1:c.13844C>G XP_011537072.1:p.Thr4615Ser
XM_011538770.2:c.13844C>G XP_011537072.1:p.Thr4615Ser
XM_011538771.1:c.13841C>G XP_011537073.1:p.Thr4614Ser
XM_011538771.2:c.13841C>G XP_011537073.1:p.Thr4614Ser
XM_011538772.1:c.13835C>G XP_011537074.1:p.Thr4612Ser
XM_011538772.2:c.13835C>G XP_011537074.1:p.Thr4612Ser
XM_011538773.1:c.13832C>G XP_011537075.1:p.Thr4611Ser
XM_011538773.2:c.13832C>G XP_011537075.1:p.Thr4611Ser
XM_011538774.1:c.13823C>G XP_011537076.1:p.Thr4608Ser
XM_011538774.2:c.13823C>G XP_011537076.1:p.Thr4608Ser
XM_011538775.1:c.13844C>G XP_011537077.1:p.Thr4615Ser
XM_011538776.1:c.13751C>G XP_011537078.1:p.Thr4584Ser
XM_011538776.2:c.13751C>G XP_011537078.1:p.Thr4584Ser
XR_001748874.1:n.15153C>G
XR_944740.1:n.16164C>G