Canonical Allele Identifier: CA382834255

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118491204-T-C
• MyVariant Identifiers: chr11:g.118361919T>C (hg19) ; chr11:g.118491204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491204T>C , CM000673.2:g.118491204T>C	GRCh38
NC_000011.9:g.118361919T>C , CM000673.1:g.118361919T>C	GRCh37
NC_000011.8:g.117867129T>C	NCBI36
NG_027813.1:g.59715T>C , LRG_613:g.59715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4804T>C	ENSP00000432391.3:p.Cys1602Arg
ENST00000710560.1:c.4804T>C	ENSP00000518343.1:p.Cys1602Arg
ENST00000685498.1:c.481T>C	ENSP00000509293.1:p.Cys161Arg
ENST00000691053.1:c.4705T>C	ENSP00000509168.1:p.Cys1569Arg
ENST00000389506.10:c.4705T>C	ENSP00000374157.5:p.Cys1569Arg
ENST00000534358.8:c.4705T>C MANE Select	ENSP00000436786.2:p.Cys1569Arg
ENST00000649699.1:c.4591T>C	ENSP00000496927.1:p.Cys1531Arg
ENST00000389506.9:c.4705T>C	ENSP00000374157.5:p.Cys1569Arg
ENST00000392873.3:c.841T>C	ENSP00000376612.3:p.Cys281Arg
ENST00000534358.5:c.4705T>C	ENSP00000436786.1:p.Cys1569Arg
NM_001197104.1:c.4705T>C , LRG_613t1:c.4705T>C	NP_001184033.1:p.Cys1569Arg
NM_005933.3:c.4705T>C	NP_005924.2:p.Cys1569Arg
XM_006718839.2:c.2188T>C	XP_006718902.2:p.Cys730Arg
XM_011542829.1:c.4804T>C	XP_011541131.1:p.Cys1602Arg
XM_011542830.1:c.4801T>C	XP_011541132.1:p.Cys1601Arg
XM_011542831.1:c.4804T>C	XP_011541133.1:p.Cys1602Arg
XM_011542832.1:c.2611T>C	XP_011541134.1:p.Cys871Arg
XM_011542833.1:c.2287T>C	XP_011541135.1:p.Cys763Arg
XM_006718839.3:c.2188T>C	XP_006718902.2:p.Cys730Arg
XM_011542829.2:c.4804T>C	XP_011541131.1:p.Cys1602Arg
XM_011542830.2:c.4801T>C	XP_011541132.1:p.Cys1601Arg
XM_011542831.2:c.4804T>C	XP_011541133.1:p.Cys1602Arg
XM_011542833.2:c.2287T>C	XP_011541135.1:p.Cys763Arg
NM_001197104.2:c.4705T>C MANE Select	NP_001184033.1:p.Cys1569Arg
NM_005933.4:c.4705T>C	NP_005924.2:p.Cys1569Arg