Canonical Allele Identifier: CA6303925

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2122987
• ClinVar RCV Id: RCV003047139
• dbSNP Id: rs534620846
• ExAC: 11:118360970 C / T
• gnomAD v2: 11-118360970-C-T
• gnomAD v3: 11-118490255-C-T
• gnomAD v4: 11-118490255-C-T
• MyVariant Identifiers: chr11:g.118360970C>T (hg19) ; chr11:g.118360970_118360971delinsTA (hg19) ; chr11:g.118490255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118490255C>T , CM000673.2:g.118490255C>T	GRCh38
NC_000011.9:g.118360970C>T , CM000673.1:g.118360970C>T	GRCh37
NC_000011.8:g.117866180C>T	NCBI36
NG_027813.1:g.58766C>T , LRG_613:g.58766C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4795+6C>T	ENSP00000432391.3:n.4795+6C>T
ENST00000710560.1:c.4795+6C>T	ENSP00000518343.1:n.4795+6C>T
ENST00000685498.1:c.472+6C>T	ENSP00000509293.1:n.472+6C>T
ENST00000691053.1:c.4696+6C>T	ENSP00000509168.1:n.4696+6C>T
ENST00000389506.10:c.4696+6C>T	ENSP00000374157.5:n.4696+6C>T
ENST00000534358.8:c.4696+6C>T MANE Select	ENSP00000436786.2:n.4696+6C>T
ENST00000649699.1:c.4582+6C>T	ENSP00000496927.1:n.4582+6C>T
ENST00000389506.9:c.4696+6C>T	ENSP00000374157.5:n.4696+6C>T
ENST00000392873.3:c.832+6C>T	ENSP00000376612.3:n.832+6C>T
ENST00000534358.5:c.4696+6C>T	ENSP00000436786.1:n.4696+6C>T
NM_001197104.1:c.4696+6C>T , LRG_613t1:c.4696+6C>T	NP_001184033.1:n.4696+6C>T
NM_005933.3:c.4696+6C>T	NP_005924.2:n.4696+6C>T
XM_006718839.2:c.2179+6C>T	XP_006718902.2:n.2179+6C>T
XM_011542829.1:c.4795+6C>T	XP_011541131.1:n.4795+6C>T
XM_011542830.1:c.4792+6C>T	XP_011541132.1:n.4792+6C>T
XM_011542831.1:c.4795+6C>T	XP_011541133.1:n.4795+6C>T
XM_011542832.1:c.2602+6C>T	XP_011541134.1:n.2602+6C>T
XM_011542833.1:c.2278+6C>T	XP_011541135.1:n.2278+6C>T
XM_006718839.3:c.2179+6C>T	XP_006718902.2:n.2179+6C>T
XM_011542829.2:c.4795+6C>T	XP_011541131.1:n.4795+6C>T
XM_011542830.2:c.4792+6C>T	XP_011541132.1:n.4792+6C>T
XM_011542831.2:c.4795+6C>T	XP_011541133.1:n.4795+6C>T
XM_011542833.2:c.2278+6C>T	XP_011541135.1:n.2278+6C>T
NM_001197104.2:c.4696+6C>T MANE Select	NP_001184033.1:n.4696+6C>T
NM_005933.4:c.4696+6C>T	NP_005924.2:n.4696+6C>T