Canonical Allele Identifier: CA6546228
Community Standard Title: NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49032476G>A , CM000674.2:g.49032476G>A GRCh38
NC_000012.11:g.49426259G>A , CM000674.1:g.49426259G>A GRCh37
NC_000012.10:g.47712526G>A NCBI36
NG_027827.1:g.27849C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.12229C>T MANE Select NP_003473.3:p.Leu4077Phe
ENST00000301067.12:c.12229C>T MANE Select ENSP00000301067.7:p.Leu4077Phe
NM_003482.3:c.12229C>T NP_003473.3:p.Leu4077Phe
ENST00000301067.11:c.12229C>T ENSP00000301067.7:p.Leu4077Phe
ENST00000683543.2:c.12229C>T ENSP00000506726.1:p.Leu4077Phe
ENST00000685166.1:c.12238C>T ENSP00000509386.1:p.Leu4080Phe
ENST00000685554.1:c.1752+37C>T ENSP00000508640.1:n.1752+37C>T
ENST00000692637.1:c.12226C>T ENSP00000509666.1:p.Leu4076Phe
ENST00000692841.1:c.3708C>T ENSP00000508711.1:n.3708C>T
XM_005269162.3:c.12229C>T XP_005269219.1:p.Leu4077Phe
XM_005269162.4:c.12229C>T XP_005269219.1:p.Leu4077Phe
XM_006719614.2:c.12238C>T XP_006719677.1:p.Leu4080Phe
XM_006719614.4:c.12238C>T XP_006719677.1:p.Leu4080Phe
XM_006719616.2:c.12226C>T XP_006719679.1:p.Leu4076Phe
XM_006719616.3:c.12226C>T XP_006719679.1:p.Leu4076Phe
XM_011538770.1:c.12238C>T XP_011537072.1:p.Leu4080Phe
XM_011538770.2:c.12238C>T XP_011537072.1:p.Leu4080Phe
XM_011538771.1:c.12235C>T XP_011537073.1:p.Leu4079Phe
XM_011538771.2:c.12235C>T XP_011537073.1:p.Leu4079Phe
XM_011538772.1:c.12229C>T XP_011537074.1:p.Leu4077Phe
XM_011538772.2:c.12229C>T XP_011537074.1:p.Leu4077Phe
XM_011538773.1:c.12226C>T XP_011537075.1:p.Leu4076Phe
XM_011538773.2:c.12226C>T XP_011537075.1:p.Leu4076Phe
XM_011538774.1:c.12217C>T XP_011537076.1:p.Leu4073Phe
XM_011538774.2:c.12217C>T XP_011537076.1:p.Leu4073Phe
XM_011538775.1:c.12238C>T XP_011537077.1:p.Leu4080Phe
XM_011538776.1:c.12145C>T XP_011537078.1:p.Leu4049Phe
XM_011538776.2:c.12145C>T XP_011537078.1:p.Leu4049Phe
XR_001748874.1:n.13547C>T
XR_944740.1:n.14558C>T