Canonical Allele Identifier: CA942726244

Gene: KMT2A

Linked Data

• dbSNP Id: rs1209336966
• gnomAD v3: 11-118491383-C-G
• gnomAD v4: 11-118491383-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491383C>G , CM000673.2:g.118491383C>G	GRCh38
NC_000011.9:g.118362098C>G , CM000673.1:g.118362098C>G	GRCh37
NC_000011.8:g.117867308C>G	NCBI36
NG_027813.1:g.59894C>G , LRG_613:g.59894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4918+65C>G	ENSP00000432391.3:n.4918+65C>G
ENST00000710560.1:c.4909+74C>G	ENSP00000518343.1:n.4909+74C>G
ENST00000685498.1:c.595+65C>G	ENSP00000509293.1:n.595+65C>G
ENST00000691053.1:c.4810+74C>G	ENSP00000509168.1:n.4810+74C>G
ENST00000389506.10:c.4810+74C>G	ENSP00000374157.5:n.4810+74C>G
ENST00000534358.8:c.4819+65C>G MANE Select	ENSP00000436786.2:n.4819+65C>G
ENST00000649699.1:c.4696+74C>G	ENSP00000496927.1:n.4696+74C>G
ENST00000389506.9:c.4810+74C>G	ENSP00000374157.5:n.4810+74C>G
ENST00000392873.3:c.946+74C>G	ENSP00000376612.3:n.946+74C>G
ENST00000534358.5:c.4819+65C>G	ENSP00000436786.1:n.4819+65C>G
NM_001197104.1:c.4819+65C>G , LRG_613t1:c.4819+65C>G	NP_001184033.1:n.4819+65C>G
NM_005933.3:c.4810+74C>G	NP_005924.2:n.4810+74C>G
XM_006718839.2:c.2302+65C>G	XP_006718902.2:n.2302+65C>G
XM_011542829.1:c.4918+65C>G	XP_011541131.1:n.4918+65C>G
XM_011542830.1:c.4915+65C>G	XP_011541132.1:n.4915+65C>G
XM_011542831.1:c.4909+74C>G	XP_011541133.1:n.4909+74C>G
XM_011542832.1:c.2725+65C>G	XP_011541134.1:n.2725+65C>G
XM_011542833.1:c.2401+65C>G	XP_011541135.1:n.2401+65C>G
XM_006718839.3:c.2302+65C>G	XP_006718902.2:n.2302+65C>G
XM_011542829.2:c.4918+65C>G	XP_011541131.1:n.4918+65C>G
XM_011542830.2:c.4915+65C>G	XP_011541132.1:n.4915+65C>G
XM_011542831.2:c.4909+74C>G	XP_011541133.1:n.4909+74C>G
XM_011542833.2:c.2401+65C>G	XP_011541135.1:n.2401+65C>G
NM_001197104.2:c.4819+65C>G MANE Select	NP_001184033.1:n.4819+65C>G
NM_005933.4:c.4810+74C>G	NP_005924.2:n.4810+74C>G