Canonical Allele Identifier: CA384709663
Community Standard Title: NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031990G>A , CM000674.2:g.49031990G>A GRCh38
NC_000012.11:g.49425773G>A , CM000674.1:g.49425773G>A GRCh37
NC_000012.10:g.47712040G>A NCBI36
NG_027827.1:g.28335C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.12715C>T MANE Select NP_003473.3:p.Gln4239Ter
ENST00000301067.12:c.12715C>T MANE Select ENSP00000301067.7:p.Gln4239Ter
NM_003482.3:c.12715C>T NP_003473.3:p.Gln4239Ter
ENST00000301067.11:c.12715C>T ENSP00000301067.7:p.Gln4239Ter
ENST00000683543.2:c.12715C>T ENSP00000506726.1:p.Gln4239Ter
ENST00000685166.1:c.12724C>T ENSP00000509386.1:p.Gln4242Ter
ENST00000685554.1:c.1752+523C>T ENSP00000508640.1:n.1752+523C>T
ENST00000692637.1:c.12712C>T ENSP00000509666.1:p.Gln4238Ter
ENST00000692841.1:c.4194C>T ENSP00000508711.1:n.4194C>T
XM_005269162.3:c.12715C>T XP_005269219.1:p.Gln4239Ter
XM_005269162.4:c.12715C>T XP_005269219.1:p.Gln4239Ter
XM_006719614.2:c.12724C>T XP_006719677.1:p.Gln4242Ter
XM_006719614.4:c.12724C>T XP_006719677.1:p.Gln4242Ter
XM_006719616.2:c.12712C>T XP_006719679.1:p.Gln4238Ter
XM_006719616.3:c.12712C>T XP_006719679.1:p.Gln4238Ter
XM_011538770.1:c.12724C>T XP_011537072.1:p.Gln4242Ter
XM_011538770.2:c.12724C>T XP_011537072.1:p.Gln4242Ter
XM_011538771.1:c.12721C>T XP_011537073.1:p.Gln4241Ter
XM_011538771.2:c.12721C>T XP_011537073.1:p.Gln4241Ter
XM_011538772.1:c.12715C>T XP_011537074.1:p.Gln4239Ter
XM_011538772.2:c.12715C>T XP_011537074.1:p.Gln4239Ter
XM_011538773.1:c.12712C>T XP_011537075.1:p.Gln4238Ter
XM_011538773.2:c.12712C>T XP_011537075.1:p.Gln4238Ter
XM_011538774.1:c.12703C>T XP_011537076.1:p.Gln4235Ter
XM_011538774.2:c.12703C>T XP_011537076.1:p.Gln4235Ter
XM_011538775.1:c.12724C>T XP_011537077.1:p.Gln4242Ter
XM_011538776.1:c.12631C>T XP_011537078.1:p.Gln4211Ter
XM_011538776.2:c.12631C>T XP_011537078.1:p.Gln4211Ter
XR_001748874.1:n.14033C>T
XR_944740.1:n.15044C>T