Canonical Allele Identifier: CA6545921
Community Standard Title: NM_003482.4(KMT2D):c.13703C>T (p.Ala4568Val)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030737G>A , CM000674.2:g.49030737G>A GRCh38
NC_000012.11:g.49424520G>A , CM000674.1:g.49424520G>A GRCh37
NC_000012.10:g.47710787G>A NCBI36
NG_027827.1:g.29588C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13703C>T MANE Select NP_003473.3:p.Ala4568Val
ENST00000301067.12:c.13703C>T MANE Select ENSP00000301067.7:p.Ala4568Val
NM_003482.3:c.13703C>T NP_003473.3:p.Ala4568Val
ENST00000301067.11:c.13703C>T ENSP00000301067.7:p.Ala4568Val
ENST00000552391.1:n.403C>T
ENST00000552391.2:n.403C>T
ENST00000683543.2:c.13703C>T ENSP00000506726.1:p.Ala4568Val
ENST00000685166.1:c.13712C>T ENSP00000509386.1:p.Ala4571Val
ENST00000685979.1:c.32C>T ENSP00000508906.1:p.Ala11Val
ENST00000685982.1:c.170C>T ENSP00000508613.1:p.Ala57Val
ENST00000686564.1:c.32C>T ENSP00000509290.1:p.Ala11Val
ENST00000691986.1:c.139-298C>T ENSP00000509196.1:n.139-298C>T
ENST00000692637.1:c.13700C>T ENSP00000509666.1:p.Ala4567Val
ENST00000692973.1:c.304C>T ENSP00000508893.1:n.304C>T
XM_005269162.3:c.13703C>T XP_005269219.1:p.Ala4568Val
XM_005269162.4:c.13703C>T XP_005269219.1:p.Ala4568Val
XM_006719614.2:c.13712C>T XP_006719677.1:p.Ala4571Val
XM_006719614.4:c.13712C>T XP_006719677.1:p.Ala4571Val
XM_006719616.2:c.13700C>T XP_006719679.1:p.Ala4567Val
XM_006719616.3:c.13700C>T XP_006719679.1:p.Ala4567Val
XM_011538770.1:c.13712C>T XP_011537072.1:p.Ala4571Val
XM_011538770.2:c.13712C>T XP_011537072.1:p.Ala4571Val
XM_011538771.1:c.13709C>T XP_011537073.1:p.Ala4570Val
XM_011538771.2:c.13709C>T XP_011537073.1:p.Ala4570Val
XM_011538772.1:c.13703C>T XP_011537074.1:p.Ala4568Val
XM_011538772.2:c.13703C>T XP_011537074.1:p.Ala4568Val
XM_011538773.1:c.13700C>T XP_011537075.1:p.Ala4567Val
XM_011538773.2:c.13700C>T XP_011537075.1:p.Ala4567Val
XM_011538774.1:c.13691C>T XP_011537076.1:p.Ala4564Val
XM_011538774.2:c.13691C>T XP_011537076.1:p.Ala4564Val
XM_011538775.1:c.13712C>T XP_011537077.1:p.Ala4571Val
XM_011538776.1:c.13619C>T XP_011537078.1:p.Ala4540Val
XM_011538776.2:c.13619C>T XP_011537078.1:p.Ala4540Val
XR_001748874.1:n.15021C>T
XR_944740.1:n.16032C>T