Canonical Allele Identifier: CA236637830
Community Standard Title: NM_003482.4(KMT2D):c.13764G>C (p.Gln4588His)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030676C>G , CM000674.2:g.49030676C>G GRCh38
NC_000012.11:g.49424459C>G , CM000674.1:g.49424459C>G GRCh37
NC_000012.10:g.47710726C>G NCBI36
NG_027827.1:g.29649G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13764G>C MANE Select NP_003473.3:p.Gln4588His
ENST00000301067.12:c.13764G>C MANE Select ENSP00000301067.7:p.Gln4588His
NM_003482.3:c.13764G>C NP_003473.3:p.Gln4588His
ENST00000301067.11:c.13764G>C ENSP00000301067.7:p.Gln4588His
ENST00000552391.1:n.464G>C
ENST00000552391.2:n.464G>C
ENST00000683543.2:c.13764G>C ENSP00000506726.1:p.Gln4588His
ENST00000685166.1:c.13773G>C ENSP00000509386.1:p.Gln4591His
ENST00000685979.1:c.93G>C ENSP00000508906.1:p.Gln31His
ENST00000685982.1:c.231G>C ENSP00000508613.1:p.Gln77His
ENST00000686564.1:c.93G>C ENSP00000509290.1:p.Gln31His
ENST00000691986.1:c.139-237G>C ENSP00000509196.1:n.139-237G>C
ENST00000692637.1:c.13761G>C ENSP00000509666.1:p.Gln4587His
ENST00000692973.1:c.365G>C ENSP00000508893.1:n.365G>C
XM_005269162.3:c.13764G>C XP_005269219.1:p.Gln4588His
XM_005269162.4:c.13764G>C XP_005269219.1:p.Gln4588His
XM_006719614.2:c.13773G>C XP_006719677.1:p.Gln4591His
XM_006719614.4:c.13773G>C XP_006719677.1:p.Gln4591His
XM_006719616.2:c.13761G>C XP_006719679.1:p.Gln4587His
XM_006719616.3:c.13761G>C XP_006719679.1:p.Gln4587His
XM_011538770.1:c.13773G>C XP_011537072.1:p.Gln4591His
XM_011538770.2:c.13773G>C XP_011537072.1:p.Gln4591His
XM_011538771.1:c.13770G>C XP_011537073.1:p.Gln4590His
XM_011538771.2:c.13770G>C XP_011537073.1:p.Gln4590His
XM_011538772.1:c.13764G>C XP_011537074.1:p.Gln4588His
XM_011538772.2:c.13764G>C XP_011537074.1:p.Gln4588His
XM_011538773.1:c.13761G>C XP_011537075.1:p.Gln4587His
XM_011538773.2:c.13761G>C XP_011537075.1:p.Gln4587His
XM_011538774.1:c.13752G>C XP_011537076.1:p.Gln4584His
XM_011538774.2:c.13752G>C XP_011537076.1:p.Gln4584His
XM_011538775.1:c.13773G>C XP_011537077.1:p.Gln4591His
XM_011538776.1:c.13680G>C XP_011537078.1:p.Gln4560His
XM_011538776.2:c.13680G>C XP_011537078.1:p.Gln4560His
XR_001748874.1:n.15082G>C
XR_944740.1:n.16093G>C