Canonical Allele Identifier: CA382826404

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118480205-C-A
• MyVariant Identifiers: chr11:g.118350920C>A (hg19) ; chr11:g.118480205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480205C>A , CM000673.2:g.118480205C>A	GRCh38
NC_000011.9:g.118350920C>A , CM000673.1:g.118350920C>A	GRCh37
NC_000011.8:g.117856130C>A	NCBI36
NG_027813.1:g.48716C>A , LRG_613:g.48716C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.3700C>A	ENSP00000432391.3:p.Pro1234Thr
ENST00000710560.1:c.3700C>A	ENSP00000518343.1:p.Pro1234Thr
ENST00000527869.7:c.1183C>A	ENSP00000432652.3:p.Pro395Thr
ENST00000533790.3:c.1084C>A	ENSP00000436700.3:p.Pro362Thr
ENST00000649690.2:c.1408C>A	ENSP00000497372.2:p.Pro470Thr
ENST00000685719.1:c.582C>A
ENST00000691053.1:c.3601C>A	ENSP00000509168.1:p.Pro1201Thr
ENST00000389506.10:c.3601C>A	ENSP00000374157.5:p.Pro1201Thr
ENST00000533790.2:c.853C>A	ENSP00000436700.2:p.Pro285Thr
ENST00000534358.8:c.3601C>A MANE Select	ENSP00000436786.2:p.Pro1201Thr
ENST00000648261.1:c.2371C>A	ENSP00000498126.1:p.Pro791Thr
ENST00000649699.1:c.3601C>A	ENSP00000496927.1:p.Pro1201Thr
ENST00000389506.9:c.3601C>A	ENSP00000374157.5:p.Pro1201Thr
ENST00000531904.6:c.3700C>A	ENSP00000432391.2:p.Pro1234Thr
ENST00000534358.5:c.3601C>A	ENSP00000436786.1:p.Pro1201Thr
NM_001197104.1:c.3601C>A , LRG_613t1:c.3601C>A	NP_001184033.1:p.Pro1201Thr
NM_005933.3:c.3601C>A	NP_005924.2:p.Pro1201Thr
XM_006718839.2:c.1084C>A	XP_006718902.2:p.Pro362Thr
XM_011542829.1:c.3700C>A	XP_011541131.1:p.Pro1234Thr
XM_011542830.1:c.3700C>A	XP_011541132.1:p.Pro1234Thr
XM_011542831.1:c.3700C>A	XP_011541133.1:p.Pro1234Thr
XM_011542832.1:c.1507C>A	XP_011541134.1:p.Pro503Thr
XM_011542833.1:c.1183C>A	XP_011541135.1:p.Pro395Thr
XM_006718839.3:c.1084C>A	XP_006718902.2:p.Pro362Thr
XM_011542829.2:c.3700C>A	XP_011541131.1:p.Pro1234Thr
XM_011542830.2:c.3700C>A	XP_011541132.1:p.Pro1234Thr
XM_011542831.2:c.3700C>A	XP_011541133.1:p.Pro1234Thr
XM_011542833.2:c.1183C>A	XP_011541135.1:p.Pro395Thr
NM_001197104.2:c.3601C>A MANE Select	NP_001184033.1:p.Pro1201Thr
NM_005933.4:c.3601C>A	NP_005924.2:p.Pro1201Thr