Canonical Allele Identifier: CA384717119
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49033079G>C , CM000674.2:g.49033079G>C GRCh38
NC_000012.11:g.49426862G>C , CM000674.1:g.49426862G>C GRCh37
NC_000012.10:g.47713129G>C NCBI36
NG_027827.1:g.27246C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.11626C>G ENSP00000506726.1:p.Leu3876Val
ENST00000685166.1:c.11635C>G ENSP00000509386.1:p.Leu3879Val
ENST00000685554.1:c.1186C>G ENSP00000508640.1:p.Leu396Val
ENST00000687201.1:c.3205C>G ENSP00000510037.1:p.Leu1069Val
ENST00000692637.1:c.11623C>G ENSP00000509666.1:p.Leu3875Val
ENST00000692841.1:c.3105C>G ENSP00000508711.1:n.3105C>G
ENST00000301067.12:c.11626C>G MANE Select ENSP00000301067.7:p.Leu3876Val
ENST00000301067.11:c.11626C>G ENSP00000301067.7:p.Leu3876Val
NM_003482.3:c.11626C>G NP_003473.3:p.Leu3876Val
XM_005269162.3:c.11626C>G XP_005269219.1:p.Leu3876Val
XM_006719614.2:c.11635C>G XP_006719677.1:p.Leu3879Val
XM_006719616.2:c.11623C>G XP_006719679.1:p.Leu3875Val
XM_011538770.1:c.11635C>G XP_011537072.1:p.Leu3879Val
XM_011538771.1:c.11632C>G XP_011537073.1:p.Leu3878Val
XM_011538772.1:c.11626C>G XP_011537074.1:p.Leu3876Val
XM_011538773.1:c.11623C>G XP_011537075.1:p.Leu3875Val
XM_011538774.1:c.11614C>G XP_011537076.1:p.Leu3872Val
XM_011538775.1:c.11635C>G XP_011537077.1:p.Leu3879Val
XM_011538776.1:c.11542C>G XP_011537078.1:p.Leu3848Val
XR_944740.1:n.13955C>G
XM_005269162.4:c.11626C>G XP_005269219.1:p.Leu3876Val
XM_006719614.4:c.11635C>G XP_006719677.1:p.Leu3879Val
XM_006719616.3:c.11623C>G XP_006719679.1:p.Leu3875Val
XM_011538770.2:c.11635C>G XP_011537072.1:p.Leu3879Val
XM_011538771.2:c.11632C>G XP_011537073.1:p.Leu3878Val
XM_011538772.2:c.11626C>G XP_011537074.1:p.Leu3876Val
XM_011538773.2:c.11623C>G XP_011537075.1:p.Leu3875Val
XM_011538774.2:c.11614C>G XP_011537076.1:p.Leu3872Val
XM_011538776.2:c.11542C>G XP_011537078.1:p.Leu3848Val
XR_001748874.1:n.12944C>G
NM_003482.4:c.11626C>G MANE Select NP_003473.3:p.Leu3876Val