Canonical Allele Identifier: CA16044391
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 375623
ClinVar RCV Id: RCV000417093
dbSNP Id: rs1057519407
MyVariant Identifiers: chr11:g.118360965G>A (hg19) chr11:g.118490250G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118490250G>A , CM000673.2:g.118490250G>A GRCh38
NC_000011.9:g.118360965G>A , CM000673.1:g.118360965G>A GRCh37
NC_000011.8:g.117866175G>A NCBI36
NG_027813.1:g.58761G>A , LRG_613:g.58761G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4795+1G>A ENSP00000432391.3:n.4795+1G>A
ENST00000710560.1:c.4795+1G>A ENSP00000518343.1:n.4795+1G>A
ENST00000685498.1:c.472+1G>A ENSP00000509293.1:n.472+1G>A
ENST00000691053.1:c.4696+1G>A ENSP00000509168.1:n.4696+1G>A
ENST00000389506.10:c.4696+1G>A ENSP00000374157.5:n.4696+1G>A
ENST00000534358.8:c.4696+1G>A MANE Select ENSP00000436786.2:n.4696+1G>A
ENST00000649699.1:c.4582+1G>A ENSP00000496927.1:n.4582+1G>A
ENST00000389506.9:c.4696+1G>A ENSP00000374157.5:n.4696+1G>A
ENST00000392873.3:c.832+1G>A ENSP00000376612.3:n.832+1G>A
ENST00000534358.5:c.4696+1G>A ENSP00000436786.1:n.4696+1G>A
NM_001197104.1:c.4696+1G>A , LRG_613t1:c.4696+1G>A NP_001184033.1:n.4696+1G>A
NM_005933.3:c.4696+1G>A NP_005924.2:n.4696+1G>A
XM_006718839.2:c.2179+1G>A XP_006718902.2:n.2179+1G>A
XM_011542829.1:c.4795+1G>A XP_011541131.1:n.4795+1G>A
XM_011542830.1:c.4792+1G>A XP_011541132.1:n.4792+1G>A
XM_011542831.1:c.4795+1G>A XP_011541133.1:n.4795+1G>A
XM_011542832.1:c.2602+1G>A XP_011541134.1:n.2602+1G>A
XM_011542833.1:c.2278+1G>A XP_011541135.1:n.2278+1G>A
XM_006718839.3:c.2179+1G>A XP_006718902.2:n.2179+1G>A
XM_011542829.2:c.4795+1G>A XP_011541131.1:n.4795+1G>A
XM_011542830.2:c.4792+1G>A XP_011541132.1:n.4792+1G>A
XM_011542831.2:c.4795+1G>A XP_011541133.1:n.4795+1G>A
XM_011542833.2:c.2278+1G>A XP_011541135.1:n.2278+1G>A
NM_001197104.2:c.4696+1G>A MANE Select NP_001184033.1:n.4696+1G>A
NM_005933.4:c.4696+1G>A NP_005924.2:n.4696+1G>A
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