Canonical Allele Identifier: CA382824210

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 431178
• ClinVar RCV Id: RCV000496312
• dbSNP Id: rs1135401764
• MyVariant Identifiers: chr11:g.118347698G>A (hg19) ; chr11:g.118476983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118476983G>A , CM000673.2:g.118476983G>A	GRCh38
NC_000011.9:g.118347698G>A , CM000673.1:g.118347698G>A	GRCh37
NC_000011.8:g.117852908G>A	NCBI36
NG_027813.1:g.45494G>A , LRG_613:g.45494G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.3433+1G>A	ENSP00000432391.3:n.3433+1G>A
ENST00000710560.1:c.3433+1G>A	ENSP00000518343.1:n.3433+1G>A
ENST00000527869.7:c.916+1G>A	ENSP00000432652.3:n.916+1G>A
ENST00000533790.3:c.817+1G>A	ENSP00000436700.3:n.817+1G>A
ENST00000649690.2:c.1141+1G>A	ENSP00000497372.2:n.1141+1G>A
ENST00000685719.1:c.315+1G>A
ENST00000691053.1:c.3334+1G>A	ENSP00000509168.1:n.3334+1G>A
ENST00000389506.10:c.3334+1G>A	ENSP00000374157.5:n.3334+1G>A
ENST00000533790.2:c.586+1G>A	ENSP00000436700.2:n.586+1G>A
ENST00000534358.8:c.3334+1G>A MANE Select	ENSP00000436786.2:n.3334+1G>A
ENST00000648261.1:c.2104+1G>A	ENSP00000498126.1:n.2104+1G>A
ENST00000649699.1:c.3334+1G>A	ENSP00000496927.1:n.3334+1G>A
ENST00000389506.9:c.3334+1G>A	ENSP00000374157.5:n.3334+1G>A
ENST00000531904.6:c.3433+1G>A	ENSP00000432391.2:n.3433+1G>A
ENST00000533790.1:c.568+1G>A	ENSP00000436700.1:n.568+1G>A
ENST00000534358.5:c.3334+1G>A	ENSP00000436786.1:n.3334+1G>A
NM_001197104.1:c.3334+1G>A , LRG_613t1:c.3334+1G>A	NP_001184033.1:n.3334+1G>A
NM_005933.3:c.3334+1G>A	NP_005924.2:n.3334+1G>A
XM_006718839.2:c.817+1G>A	XP_006718902.2:n.817+1G>A
XM_011542829.1:c.3433+1G>A	XP_011541131.1:n.3433+1G>A
XM_011542830.1:c.3433+1G>A	XP_011541132.1:n.3433+1G>A
XM_011542831.1:c.3433+1G>A	XP_011541133.1:n.3433+1G>A
XM_011542832.1:c.1240+1G>A	XP_011541134.1:n.1240+1G>A
XM_011542833.1:c.916+1G>A	XP_011541135.1:n.916+1G>A
XM_006718839.3:c.817+1G>A	XP_006718902.2:n.817+1G>A
XM_011542829.2:c.3433+1G>A	XP_011541131.1:n.3433+1G>A
XM_011542830.2:c.3433+1G>A	XP_011541132.1:n.3433+1G>A
XM_011542831.2:c.3433+1G>A	XP_011541133.1:n.3433+1G>A
XM_011542833.2:c.916+1G>A	XP_011541135.1:n.916+1G>A
NM_001197104.2:c.3334+1G>A MANE Select	NP_001184033.1:n.3334+1G>A
NM_005933.4:c.3334+1G>A	NP_005924.2:n.3334+1G>A