Canonical Allele Identifier: CA384699443
Community Standard Title: NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49029419T>G , CM000674.2:g.49029419T>G GRCh38
NC_000012.11:g.49423202T>G , CM000674.1:g.49423202T>G GRCh37
NC_000012.10:g.47709469T>G NCBI36
NG_027827.1:g.30906A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14057A>C MANE Select NP_003473.3:p.Asn4686Thr
ENST00000301067.12:c.14057A>C MANE Select ENSP00000301067.7:p.Asn4686Thr
NM_003482.3:c.14057A>C NP_003473.3:p.Asn4686Thr
ENST00000301067.11:c.14057A>C ENSP00000301067.7:p.Asn4686Thr
ENST00000552391.2:n.918A>C
ENST00000683543.2:c.14057A>C ENSP00000506726.1:p.Asn4686Thr
ENST00000685166.1:c.14066A>C ENSP00000509386.1:p.Asn4689Thr
ENST00000685979.1:c.320A>C ENSP00000508906.1:p.Asn107Thr
ENST00000686564.1:c.317A>C ENSP00000509290.1:p.Asn106Thr
ENST00000687241.1:c.149A>C ENSP00000509842.1:p.Asn50Thr
ENST00000691986.1:c.356A>C ENSP00000509196.1:p.Asn119Thr
ENST00000692637.1:c.14054A>C ENSP00000509666.1:p.Asn4685Thr
XM_005269162.3:c.14057A>C XP_005269219.1:p.Asn4686Thr
XM_005269162.4:c.14057A>C XP_005269219.1:p.Asn4686Thr
XM_006719614.2:c.14066A>C XP_006719677.1:p.Asn4689Thr
XM_006719614.4:c.14066A>C XP_006719677.1:p.Asn4689Thr
XM_006719616.2:c.14054A>C XP_006719679.1:p.Asn4685Thr
XM_006719616.3:c.14054A>C XP_006719679.1:p.Asn4685Thr
XM_011538770.1:c.14066A>C XP_011537072.1:p.Asn4689Thr
XM_011538770.2:c.14066A>C XP_011537072.1:p.Asn4689Thr
XM_011538771.1:c.14063A>C XP_011537073.1:p.Asn4688Thr
XM_011538771.2:c.14063A>C XP_011537073.1:p.Asn4688Thr
XM_011538772.1:c.14057A>C XP_011537074.1:p.Asn4686Thr
XM_011538772.2:c.14057A>C XP_011537074.1:p.Asn4686Thr
XM_011538773.1:c.14054A>C XP_011537075.1:p.Asn4685Thr
XM_011538773.2:c.14054A>C XP_011537075.1:p.Asn4685Thr
XM_011538774.1:c.14045A>C XP_011537076.1:p.Asn4682Thr
XM_011538774.2:c.14045A>C XP_011537076.1:p.Asn4682Thr
XM_011538775.1:c.14000A>C XP_011537077.1:p.Asn4667Thr
XM_011538776.1:c.13973A>C XP_011537078.1:p.Asn4658Thr
XM_011538776.2:c.13973A>C XP_011537078.1:p.Asn4658Thr
XR_001748874.1:n.15375A>C
XR_944740.1:n.16386A>C