Canonical Allele Identifier: CA382831795

Gene: KMT2A

Linked Data

• dbSNP Id: rs1162506897
• gnomAD v3: 11-118488635-T-A
• gnomAD v4: 11-118488635-T-A
• MyVariant Identifiers: chr11:g.118359350T>A (hg19) ; chr11:g.118488635T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118488635T>A , CM000673.2:g.118488635T>A	GRCh38
NC_000011.9:g.118359350T>A , CM000673.1:g.118359350T>A	GRCh37
NC_000011.8:g.117864560T>A	NCBI36
NG_027813.1:g.57146T>A , LRG_613:g.57146T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4453T>A	ENSP00000432391.3:p.Cys1485Ser
ENST00000710560.1:c.4453T>A	ENSP00000518343.1:p.Cys1485Ser
ENST00000420751.4:c.265T>A	ENSP00000510776.1:p.Cys89Ser
ENST00000685498.1:c.133T>A	ENSP00000509293.1:p.Cys45Ser
ENST00000691053.1:c.4354T>A	ENSP00000509168.1:p.Cys1452Ser
ENST00000389506.10:c.4354T>A	ENSP00000374157.5:p.Cys1452Ser
ENST00000534358.8:c.4354T>A MANE Select	ENSP00000436786.2:p.Cys1452Ser
ENST00000649699.1:c.4240T>A	ENSP00000496927.1:p.Cys1414Ser
ENST00000389506.9:c.4354T>A	ENSP00000374157.5:p.Cys1452Ser
ENST00000392873.3:c.490T>A	ENSP00000376612.3:p.Cys164Ser
ENST00000534358.5:c.4354T>A	ENSP00000436786.1:p.Cys1452Ser
NM_001197104.1:c.4354T>A , LRG_613t1:c.4354T>A	NP_001184033.1:p.Cys1452Ser
NM_005933.3:c.4354T>A	NP_005924.2:p.Cys1452Ser
XM_006718839.2:c.1837T>A	XP_006718902.2:p.Cys613Ser
XM_011542829.1:c.4453T>A	XP_011541131.1:p.Cys1485Ser
XM_011542830.1:c.4453T>A	XP_011541132.1:p.Cys1485Ser
XM_011542831.1:c.4453T>A	XP_011541133.1:p.Cys1485Ser
XM_011542832.1:c.2260T>A	XP_011541134.1:p.Cys754Ser
XM_011542833.1:c.1936T>A	XP_011541135.1:p.Cys646Ser
XM_006718839.3:c.1837T>A	XP_006718902.2:p.Cys613Ser
XM_011542829.2:c.4453T>A	XP_011541131.1:p.Cys1485Ser
XM_011542830.2:c.4453T>A	XP_011541132.1:p.Cys1485Ser
XM_011542831.2:c.4453T>A	XP_011541133.1:p.Cys1485Ser
XM_011542833.2:c.1936T>A	XP_011541135.1:p.Cys646Ser
NM_001197104.2:c.4354T>A MANE Select	NP_001184033.1:p.Cys1452Ser
NM_005933.4:c.4354T>A	NP_005924.2:p.Cys1452Ser