Canonical Allele Identifier: CA382831792

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 3027321
• ClinVar RCV Id: RCV003887714
• MyVariant Identifiers: chr11:g.118359348G>T (hg19) ; chr11:g.118488633G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118488633G>T , CM000673.2:g.118488633G>T	GRCh38
NC_000011.9:g.118359348G>T , CM000673.1:g.118359348G>T	GRCh37
NC_000011.8:g.117864558G>T	NCBI36
NG_027813.1:g.57144G>T , LRG_613:g.57144G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4451G>T	ENSP00000432391.3:p.Cys1484Phe
ENST00000710560.1:c.4451G>T	ENSP00000518343.1:p.Cys1484Phe
ENST00000420751.4:c.263G>T	ENSP00000510776.1:p.Cys88Phe
ENST00000685498.1:c.131G>T	ENSP00000509293.1:p.Cys44Phe
ENST00000691053.1:c.4352G>T	ENSP00000509168.1:p.Cys1451Phe
ENST00000389506.10:c.4352G>T	ENSP00000374157.5:p.Cys1451Phe
ENST00000534358.8:c.4352G>T MANE Select	ENSP00000436786.2:p.Cys1451Phe
ENST00000649699.1:c.4238G>T	ENSP00000496927.1:p.Cys1413Phe
ENST00000389506.9:c.4352G>T	ENSP00000374157.5:p.Cys1451Phe
ENST00000392873.3:c.488G>T	ENSP00000376612.3:p.Cys163Phe
ENST00000534358.5:c.4352G>T	ENSP00000436786.1:p.Cys1451Phe
NM_001197104.1:c.4352G>T , LRG_613t1:c.4352G>T	NP_001184033.1:p.Cys1451Phe
NM_005933.3:c.4352G>T	NP_005924.2:p.Cys1451Phe
XM_006718839.2:c.1835G>T	XP_006718902.2:p.Cys612Phe
XM_011542829.1:c.4451G>T	XP_011541131.1:p.Cys1484Phe
XM_011542830.1:c.4451G>T	XP_011541132.1:p.Cys1484Phe
XM_011542831.1:c.4451G>T	XP_011541133.1:p.Cys1484Phe
XM_011542832.1:c.2258G>T	XP_011541134.1:p.Cys753Phe
XM_011542833.1:c.1934G>T	XP_011541135.1:p.Cys645Phe
XM_006718839.3:c.1835G>T	XP_006718902.2:p.Cys612Phe
XM_011542829.2:c.4451G>T	XP_011541131.1:p.Cys1484Phe
XM_011542830.2:c.4451G>T	XP_011541132.1:p.Cys1484Phe
XM_011542831.2:c.4451G>T	XP_011541133.1:p.Cys1484Phe
XM_011542833.2:c.1934G>T	XP_011541135.1:p.Cys645Phe
NM_001197104.2:c.4352G>T MANE Select	NP_001184033.1:p.Cys1451Phe
NM_005933.4:c.4352G>T	NP_005924.2:p.Cys1451Phe