Canonical Allele Identifier: CA6545817
Community Standard Title: NM_003482.4(KMT2D):c.14161C>T (p.Arg4721Cys)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49029151G>A , CM000674.2:g.49029151G>A GRCh38
NC_000012.11:g.49422934G>A , CM000674.1:g.49422934G>A GRCh37
NC_000012.10:g.47709201G>A NCBI36
NG_027827.1:g.31174C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14161C>T MANE Select NP_003473.3:p.Arg4721Cys
ENST00000301067.12:c.14161C>T MANE Select ENSP00000301067.7:p.Arg4721Cys
NM_003482.3:c.14161C>T NP_003473.3:p.Arg4721Cys
ENST00000301067.11:c.14161C>T ENSP00000301067.7:p.Arg4721Cys
ENST00000683543.2:c.14161C>T ENSP00000506726.1:p.Arg4721Cys
ENST00000685166.1:c.14170C>T ENSP00000509386.1:p.Arg4724Cys
ENST00000685979.1:c.424C>T ENSP00000508906.1:p.Arg142Cys
ENST00000686564.1:c.421C>T ENSP00000509290.1:p.Arg141Cys
ENST00000687241.1:c.253C>T ENSP00000509842.1:p.Arg85Cys
ENST00000691986.1:c.460C>T ENSP00000509196.1:p.Arg154Cys
ENST00000692637.1:c.14158C>T ENSP00000509666.1:p.Arg4720Cys
XM_005269162.3:c.14161C>T XP_005269219.1:p.Arg4721Cys
XM_005269162.4:c.14161C>T XP_005269219.1:p.Arg4721Cys
XM_006719614.2:c.14170C>T XP_006719677.1:p.Arg4724Cys
XM_006719614.4:c.14170C>T XP_006719677.1:p.Arg4724Cys
XM_006719616.2:c.14158C>T XP_006719679.1:p.Arg4720Cys
XM_006719616.3:c.14158C>T XP_006719679.1:p.Arg4720Cys
XM_011538770.1:c.14170C>T XP_011537072.1:p.Arg4724Cys
XM_011538770.2:c.14170C>T XP_011537072.1:p.Arg4724Cys
XM_011538771.1:c.14167C>T XP_011537073.1:p.Arg4723Cys
XM_011538771.2:c.14167C>T XP_011537073.1:p.Arg4723Cys
XM_011538772.1:c.14161C>T XP_011537074.1:p.Arg4721Cys
XM_011538772.2:c.14161C>T XP_011537074.1:p.Arg4721Cys
XM_011538773.1:c.14158C>T XP_011537075.1:p.Arg4720Cys
XM_011538773.2:c.14158C>T XP_011537075.1:p.Arg4720Cys
XM_011538774.1:c.14149C>T XP_011537076.1:p.Arg4717Cys
XM_011538774.2:c.14149C>T XP_011537076.1:p.Arg4717Cys
XM_011538775.1:c.14104C>T XP_011537077.1:p.Arg4702Cys
XM_011538776.1:c.14077C>T XP_011537078.1:p.Arg4693Cys
XM_011538776.2:c.14077C>T XP_011537078.1:p.Arg4693Cys
XR_001748874.1:n.15479C>T
XR_944740.1:n.16490C>T