Canonical Allele Identifier: CA382798335

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 430819
• ClinVar RCV Id: RCV000578141
• dbSNP Id: rs1555044700
• MyVariant Identifiers: chr11:g.118369084G>A (hg19) ; chr11:g.118498369G>A (hg38)
• PubMed: PMID:29255178

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118498369G>A , CM000673.2:g.118498369G>A	GRCh38
NC_000011.9:g.118369084G>A , CM000673.1:g.118369084G>A	GRCh37
NC_000011.8:g.117874294G>A	NCBI36
NG_027813.1:g.66880G>A , LRG_613:g.66880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.5902-1G>A	ENSP00000432391.3:n.5902-1G>A
ENST00000710560.1:c.5893-1G>A	ENSP00000518343.1:n.5893-1G>A
ENST00000689424.1:c.139-1G>A	ENSP00000509852.1:n.139-1G>A
ENST00000691053.1:c.5875-1G>A	ENSP00000509168.1:n.5875-1G>A
ENST00000389506.10:c.5794-1G>A	ENSP00000374157.5:n.5794-1G>A
ENST00000528278.2:n.2884-1G>A
ENST00000534358.8:c.5803-1G>A MANE Select	ENSP00000436786.2:n.5803-1G>A
ENST00000649699.1:c.5680-1G>A	ENSP00000496927.1:n.5680-1G>A
ENST00000389506.9:c.5794-1G>A	ENSP00000374157.5:n.5794-1G>A
ENST00000534358.5:c.5803-1G>A	ENSP00000436786.1:n.5803-1G>A
NM_001197104.1:c.5803-1G>A , LRG_613t1:c.5803-1G>A	NP_001184033.1:n.5803-1G>A
NM_005933.3:c.5794-1G>A	NP_005924.2:n.5794-1G>A
XM_006718839.2:c.3286-1G>A	XP_006718902.2:n.3286-1G>A
XM_011542829.1:c.5902-1G>A	XP_011541131.1:n.5902-1G>A
XM_011542830.1:c.5899-1G>A	XP_011541132.1:n.5899-1G>A
XM_011542831.1:c.5893-1G>A	XP_011541133.1:n.5893-1G>A
XM_011542832.1:c.3709-1G>A	XP_011541134.1:n.3709-1G>A
XM_011542833.1:c.3385-1G>A	XP_011541135.1:n.3385-1G>A
XM_006718839.3:c.3286-1G>A	XP_006718902.2:n.3286-1G>A
XM_011542829.2:c.5902-1G>A	XP_011541131.1:n.5902-1G>A
XM_011542830.2:c.5899-1G>A	XP_011541132.1:n.5899-1G>A
XM_011542831.2:c.5893-1G>A	XP_011541133.1:n.5893-1G>A
XM_011542833.2:c.3385-1G>A	XP_011541135.1:n.3385-1G>A
NM_001197104.2:c.5803-1G>A MANE Select	NP_001184033.1:n.5803-1G>A
NM_005933.4:c.5794-1G>A	NP_005924.2:n.5794-1G>A