Canonical Allele Identifier: CA6546027
Community Standard Title: NM_003482.4(KMT2D):c.13421T>G (p.Leu4474Arg)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031284A>C , CM000674.2:g.49031284A>C GRCh38
NC_000012.11:g.49425067A>C , CM000674.1:g.49425067A>C GRCh37
NC_000012.10:g.47711334A>C NCBI36
NG_027827.1:g.29041T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13421T>G MANE Select NP_003473.3:p.Leu4474Arg
ENST00000301067.12:c.13421T>G MANE Select ENSP00000301067.7:p.Leu4474Arg
NM_003482.3:c.13421T>G NP_003473.3:p.Leu4474Arg
ENST00000301067.11:c.13421T>G ENSP00000301067.7:p.Leu4474Arg
ENST00000552391.1:n.121T>G
ENST00000552391.2:n.121T>G
ENST00000683543.2:c.13421T>G ENSP00000506726.1:p.Leu4474Arg
ENST00000685166.1:c.13430T>G ENSP00000509386.1:p.Leu4477Arg
ENST00000685554.1:c.1781T>G ENSP00000508640.1:p.Leu594Arg
ENST00000685982.1:c.29T>G ENSP00000508613.1:p.Leu10Arg
ENST00000691986.1:c.29T>G ENSP00000509196.1:p.Leu10Arg
ENST00000692637.1:c.13418T>G ENSP00000509666.1:p.Leu4473Arg
ENST00000692841.1:c.4900T>G ENSP00000508711.1:n.4900T>G
ENST00000692973.1:c.29T>G ENSP00000508893.1:p.Leu10Arg
XM_005269162.3:c.13421T>G XP_005269219.1:p.Leu4474Arg
XM_005269162.4:c.13421T>G XP_005269219.1:p.Leu4474Arg
XM_006719614.2:c.13430T>G XP_006719677.1:p.Leu4477Arg
XM_006719614.4:c.13430T>G XP_006719677.1:p.Leu4477Arg
XM_006719616.2:c.13418T>G XP_006719679.1:p.Leu4473Arg
XM_006719616.3:c.13418T>G XP_006719679.1:p.Leu4473Arg
XM_011538770.1:c.13430T>G XP_011537072.1:p.Leu4477Arg
XM_011538770.2:c.13430T>G XP_011537072.1:p.Leu4477Arg
XM_011538771.1:c.13427T>G XP_011537073.1:p.Leu4476Arg
XM_011538771.2:c.13427T>G XP_011537073.1:p.Leu4476Arg
XM_011538772.1:c.13421T>G XP_011537074.1:p.Leu4474Arg
XM_011538772.2:c.13421T>G XP_011537074.1:p.Leu4474Arg
XM_011538773.1:c.13418T>G XP_011537075.1:p.Leu4473Arg
XM_011538773.2:c.13418T>G XP_011537075.1:p.Leu4473Arg
XM_011538774.1:c.13409T>G XP_011537076.1:p.Leu4470Arg
XM_011538774.2:c.13409T>G XP_011537076.1:p.Leu4470Arg
XM_011538775.1:c.13430T>G XP_011537077.1:p.Leu4477Arg
XM_011538776.1:c.13337T>G XP_011537078.1:p.Leu4446Arg
XM_011538776.2:c.13337T>G XP_011537078.1:p.Leu4446Arg
XR_001748874.1:n.14739T>G
XR_944740.1:n.15750T>G