Canonical Allele Identifier: CA942721652

Gene: KMT2A

Linked Data

• dbSNP Id: rs1950072269
• gnomAD v3: 11-118478222-G-T
• gnomAD v4: 11-118478222-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118478222G>T , CM000673.2:g.118478222G>T	GRCh38
NC_000011.9:g.118348937G>T , CM000673.1:g.118348937G>T	GRCh37
NC_000011.8:g.117854147G>T	NCBI36
NG_027813.1:g.46733G>T , LRG_613:g.46733G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.3668+21G>T	ENSP00000432391.3:n.3668+21G>T
ENST00000710560.1:c.3668+21G>T	ENSP00000518343.1:n.3668+21G>T
ENST00000527869.7:c.1151+21G>T	ENSP00000432652.3:n.1151+21G>T
ENST00000533790.3:c.1052+21G>T	ENSP00000436700.3:n.1052+21G>T
ENST00000649690.2:c.1376+21G>T	ENSP00000497372.2:n.1376+21G>T
ENST00000685719.1:c.550+21G>T
ENST00000691053.1:c.3569+21G>T	ENSP00000509168.1:n.3569+21G>T
ENST00000389506.10:c.3569+21G>T	ENSP00000374157.5:n.3569+21G>T
ENST00000533790.2:c.821+21G>T	ENSP00000436700.2:n.821+21G>T
ENST00000534358.8:c.3569+21G>T MANE Select	ENSP00000436786.2:n.3569+21G>T
ENST00000648261.1:c.2339+21G>T	ENSP00000498126.1:n.2339+21G>T
ENST00000649699.1:c.3569+21G>T	ENSP00000496927.1:n.3569+21G>T
ENST00000389506.9:c.3569+21G>T	ENSP00000374157.5:n.3569+21G>T
ENST00000531904.6:c.3668+21G>T	ENSP00000432391.2:n.3668+21G>T
ENST00000534358.5:c.3569+21G>T	ENSP00000436786.1:n.3569+21G>T
NM_001197104.1:c.3569+21G>T , LRG_613t1:c.3569+21G>T	NP_001184033.1:n.3569+21G>T
NM_005933.3:c.3569+21G>T	NP_005924.2:n.3569+21G>T
XM_006718839.2:c.1052+21G>T	XP_006718902.2:n.1052+21G>T
XM_011542829.1:c.3668+21G>T	XP_011541131.1:n.3668+21G>T
XM_011542830.1:c.3668+21G>T	XP_011541132.1:n.3668+21G>T
XM_011542831.1:c.3668+21G>T	XP_011541133.1:n.3668+21G>T
XM_011542832.1:c.1475+21G>T	XP_011541134.1:n.1475+21G>T
XM_011542833.1:c.1151+21G>T	XP_011541135.1:n.1151+21G>T
XM_006718839.3:c.1052+21G>T	XP_006718902.2:n.1052+21G>T
XM_011542829.2:c.3668+21G>T	XP_011541131.1:n.3668+21G>T
XM_011542830.2:c.3668+21G>T	XP_011541132.1:n.3668+21G>T
XM_011542831.2:c.3668+21G>T	XP_011541133.1:n.3668+21G>T
XM_011542833.2:c.1151+21G>T	XP_011541135.1:n.1151+21G>T
NM_001197104.2:c.3569+21G>T MANE Select	NP_001184033.1:n.3569+21G>T
NM_005933.4:c.3569+21G>T	NP_005924.2:n.3569+21G>T