Canonical Allele Identifier: CA602140723

Gene: KMT2A

Linked Data

• dbSNP Id: rs1555042318
• gnomAD v2: 11-118361852-G-C
• MyVariant Identifiers: chr11:g.118361852G>C (hg19) ; chr11:g.118491137G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491137G>C , CM000673.2:g.118491137G>C	GRCh38
NC_000011.9:g.118361852G>C , CM000673.1:g.118361852G>C	GRCh37
NC_000011.8:g.117867062G>C	NCBI36
NG_027813.1:g.59648G>C , LRG_613:g.59648G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4796-59G>C	ENSP00000432391.3:n.4796-59G>C
ENST00000710560.1:c.4796-59G>C	ENSP00000518343.1:n.4796-59G>C
ENST00000685498.1:c.473-59G>C	ENSP00000509293.1:n.473-59G>C
ENST00000691053.1:c.4697-59G>C	ENSP00000509168.1:n.4697-59G>C
ENST00000389506.10:c.4697-59G>C	ENSP00000374157.5:n.4697-59G>C
ENST00000534358.8:c.4697-59G>C MANE Select	ENSP00000436786.2:n.4697-59G>C
ENST00000649699.1:c.4583-59G>C	ENSP00000496927.1:n.4583-59G>C
ENST00000389506.9:c.4697-59G>C	ENSP00000374157.5:n.4697-59G>C
ENST00000392873.3:c.833-59G>C	ENSP00000376612.3:n.833-59G>C
ENST00000534358.5:c.4697-59G>C	ENSP00000436786.1:n.4697-59G>C
NM_001197104.1:c.4697-59G>C , LRG_613t1:c.4697-59G>C	NP_001184033.1:n.4697-59G>C
NM_005933.3:c.4697-59G>C	NP_005924.2:n.4697-59G>C
XM_006718839.2:c.2180-59G>C	XP_006718902.2:n.2180-59G>C
XM_011542829.1:c.4796-59G>C	XP_011541131.1:n.4796-59G>C
XM_011542830.1:c.4793-59G>C	XP_011541132.1:n.4793-59G>C
XM_011542831.1:c.4796-59G>C	XP_011541133.1:n.4796-59G>C
XM_011542832.1:c.2603-59G>C	XP_011541134.1:n.2603-59G>C
XM_011542833.1:c.2279-59G>C	XP_011541135.1:n.2279-59G>C
XM_006718839.3:c.2180-59G>C	XP_006718902.2:n.2180-59G>C
XM_011542829.2:c.4796-59G>C	XP_011541131.1:n.4796-59G>C
XM_011542830.2:c.4793-59G>C	XP_011541132.1:n.4793-59G>C
XM_011542831.2:c.4796-59G>C	XP_011541133.1:n.4796-59G>C
XM_011542833.2:c.2279-59G>C	XP_011541135.1:n.2279-59G>C
NM_001197104.2:c.4697-59G>C MANE Select	NP_001184033.1:n.4697-59G>C
NM_005933.4:c.4697-59G>C	NP_005924.2:n.4697-59G>C