Canonical Allele Identifier: CA477091637
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1541815
ClinVar RCV Id: RCV002164778
dbSNP Id: rs764942352
MyVariant Identifiers: chr11:g.118361981A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491266A>G , CM000673.2:g.118491266A>G GRCh38
NC_000011.9:g.118361981A>G , CM000673.1:g.118361981A>G GRCh37
NC_000011.8:g.117867191A>G NCBI36
NG_027813.1:g.59777A>G , LRG_613:g.59777A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4866A>G ENSP00000432391.3:p.Gly1622=
ENST00000710560.1:c.4866A>G ENSP00000518343.1:p.Gly1622=
ENST00000685498.1:c.543A>G ENSP00000509293.1:p.Gly181=
ENST00000691053.1:c.4767A>G ENSP00000509168.1:p.Gly1589=
ENST00000389506.10:c.4767A>G ENSP00000374157.5:p.Gly1589=
ENST00000534358.8:c.4767A>G MANE Select ENSP00000436786.2:p.Gly1589=
ENST00000649699.1:c.4653A>G ENSP00000496927.1:p.Gly1551=
ENST00000389506.9:c.4767A>G ENSP00000374157.5:p.Gly1589=
ENST00000392873.3:c.903A>G ENSP00000376612.3:p.Gly301=
ENST00000534358.5:c.4767A>G ENSP00000436786.1:p.Gly1589=
NM_001197104.1:c.4767A>G , LRG_613t1:c.4767A>G NP_001184033.1:p.Gly1589=
NM_005933.3:c.4767A>G NP_005924.2:p.Gly1589=
XM_006718839.2:c.2250A>G XP_006718902.2:p.Gly750=
XM_011542829.1:c.4866A>G XP_011541131.1:p.Gly1622=
XM_011542830.1:c.4863A>G XP_011541132.1:p.Gly1621=
XM_011542831.1:c.4866A>G XP_011541133.1:p.Gly1622=
XM_011542832.1:c.2673A>G XP_011541134.1:p.Gly891=
XM_011542833.1:c.2349A>G XP_011541135.1:p.Gly783=
XM_006718839.3:c.2250A>G XP_006718902.2:p.Gly750=
XM_011542829.2:c.4866A>G XP_011541131.1:p.Gly1622=
XM_011542830.2:c.4863A>G XP_011541132.1:p.Gly1621=
XM_011542831.2:c.4866A>G XP_011541133.1:p.Gly1622=
XM_011542833.2:c.2349A>G XP_011541135.1:p.Gly783=
NM_001197104.2:c.4767A>G MANE Select NP_001184033.1:p.Gly1589=
NM_005933.4:c.4767A>G NP_005924.2:p.Gly1589=