Canonical Allele Identifier: CA384701840
Community Standard Title: NM_003482.4(KMT2D):c.13804A>G (p.Thr4602Ala)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030636T>C , CM000674.2:g.49030636T>C GRCh38
NC_000012.11:g.49424419T>C , CM000674.1:g.49424419T>C GRCh37
NC_000012.10:g.47710686T>C NCBI36
NG_027827.1:g.29689A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13804A>G MANE Select NP_003473.3:p.Thr4602Ala
ENST00000301067.12:c.13804A>G MANE Select ENSP00000301067.7:p.Thr4602Ala
NM_003482.3:c.13804A>G NP_003473.3:p.Thr4602Ala
ENST00000301067.11:c.13804A>G ENSP00000301067.7:p.Thr4602Ala
ENST00000552391.1:n.504A>G
ENST00000552391.2:n.504A>G
ENST00000683543.2:c.13804A>G ENSP00000506726.1:p.Thr4602Ala
ENST00000685166.1:c.13813A>G ENSP00000509386.1:p.Thr4605Ala
ENST00000685979.1:c.133A>G ENSP00000508906.1:p.Thr45Ala
ENST00000685982.1:c.271A>G ENSP00000508613.1:p.Thr91Ala
ENST00000686564.1:c.133A>G ENSP00000509290.1:p.Thr45Ala
ENST00000691986.1:c.139-197A>G ENSP00000509196.1:n.139-197A>G
ENST00000692637.1:c.13801A>G ENSP00000509666.1:p.Thr4601Ala
ENST00000692973.1:c.405A>G ENSP00000508893.1:n.405A>G
XM_005269162.3:c.13804A>G XP_005269219.1:p.Thr4602Ala
XM_005269162.4:c.13804A>G XP_005269219.1:p.Thr4602Ala
XM_006719614.2:c.13813A>G XP_006719677.1:p.Thr4605Ala
XM_006719614.4:c.13813A>G XP_006719677.1:p.Thr4605Ala
XM_006719616.2:c.13801A>G XP_006719679.1:p.Thr4601Ala
XM_006719616.3:c.13801A>G XP_006719679.1:p.Thr4601Ala
XM_011538770.1:c.13813A>G XP_011537072.1:p.Thr4605Ala
XM_011538770.2:c.13813A>G XP_011537072.1:p.Thr4605Ala
XM_011538771.1:c.13810A>G XP_011537073.1:p.Thr4604Ala
XM_011538771.2:c.13810A>G XP_011537073.1:p.Thr4604Ala
XM_011538772.1:c.13804A>G XP_011537074.1:p.Thr4602Ala
XM_011538772.2:c.13804A>G XP_011537074.1:p.Thr4602Ala
XM_011538773.1:c.13801A>G XP_011537075.1:p.Thr4601Ala
XM_011538773.2:c.13801A>G XP_011537075.1:p.Thr4601Ala
XM_011538774.1:c.13792A>G XP_011537076.1:p.Thr4598Ala
XM_011538774.2:c.13792A>G XP_011537076.1:p.Thr4598Ala
XM_011538775.1:c.13813A>G XP_011537077.1:p.Thr4605Ala
XM_011538776.1:c.13720A>G XP_011537078.1:p.Thr4574Ala
XM_011538776.2:c.13720A>G XP_011537078.1:p.Thr4574Ala
XR_001748874.1:n.15122A>G
XR_944740.1:n.16133A>G