Canonical Allele Identifier: CA6545472
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1331267
dbSNP Id: rs369156879

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024823C>T , CM000674.2:g.49024823C>T GRCh38
NC_000012.11:g.49418606C>T , CM000674.1:g.49418606C>T GRCh37
NC_000012.10:g.47704873C>T NCBI36
NG_027827.1:g.35502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.580G>A
ENST00000683543.2:c.15908G>A ENSP00000506726.1:p.Arg5303His
ENST00000683863.1:n.1623G>A
ENST00000684428.1:c.443G>A ENSP00000507433.1:p.Arg148His
ENST00000684755.1:n.443G>A
ENST00000685024.1:c.1033G>A
ENST00000685166.1:c.15917G>A ENSP00000509386.1:p.Arg5306His
ENST00000688411.1:c.385G>A ENSP00000510146.1:n.385G>A
ENST00000691463.1:c.1294G>A ENSP00000510624.1:n.1294G>A
ENST00000692637.1:c.15905G>A ENSP00000509666.1:p.Arg5302His
ENST00000301067.12:c.15908G>A MANE Select ENSP00000301067.7:p.Arg5303His
ENST00000301067.11:c.15908G>A ENSP00000301067.7:p.Arg5303His
NM_003482.3:c.15908G>A NP_003473.3:p.Arg5303His
XM_005269162.3:c.15908G>A XP_005269219.1:p.Arg5303His
XM_006719614.2:c.15917G>A XP_006719677.1:p.Arg5306His
XM_006719616.2:c.15905G>A XP_006719679.1:p.Arg5302His
XM_011538770.1:c.15917G>A XP_011537072.1:p.Arg5306His
XM_011538771.1:c.15914G>A XP_011537073.1:p.Arg5305His
XM_011538772.1:c.15908G>A XP_011537074.1:p.Arg5303His
XM_011538773.1:c.15905G>A XP_011537075.1:p.Arg5302His
XM_011538774.1:c.15896G>A XP_011537076.1:p.Arg5299His
XM_011538775.1:c.15851G>A XP_011537077.1:p.Arg5284His
XM_011538776.1:c.15824G>A XP_011537078.1:p.Arg5275His
XR_944740.1:n.17096G>A
XM_005269162.4:c.15908G>A XP_005269219.1:p.Arg5303His
XM_006719614.4:c.15917G>A XP_006719677.1:p.Arg5306His
XM_006719616.3:c.15905G>A XP_006719679.1:p.Arg5302His
XM_011538770.2:c.15917G>A XP_011537072.1:p.Arg5306His
XM_011538771.2:c.15914G>A XP_011537073.1:p.Arg5305His
XM_011538772.2:c.15908G>A XP_011537074.1:p.Arg5303His
XM_011538773.2:c.15905G>A XP_011537075.1:p.Arg5302His
XM_011538774.2:c.15896G>A XP_011537076.1:p.Arg5299His
XM_011538776.2:c.15824G>A XP_011537078.1:p.Arg5275His
XR_001748874.1:n.16085G>A
NM_003482.4:c.15908G>A MANE Select NP_003473.3:p.Arg5303His