Canonical Allele Identifier: CA602161143

Gene: KMT2A

Linked Data

• dbSNP Id: rs1555042140
• gnomAD v2: 11-118360980-A-C
• gnomAD v4: 11-118490265-A-C
• MyVariant Identifiers: chr11:g.118360980A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118490265A>C , CM000673.2:g.118490265A>C	GRCh38
NC_000011.9:g.118360980A>C , CM000673.1:g.118360980A>C	GRCh37
NC_000011.8:g.117866190A>C	NCBI36
NG_027813.1:g.58776A>C , LRG_613:g.58776A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4795+16A>C	ENSP00000432391.3:n.4795+16A>C
ENST00000710560.1:c.4795+16A>C	ENSP00000518343.1:n.4795+16A>C
ENST00000685498.1:c.472+16A>C	ENSP00000509293.1:n.472+16A>C
ENST00000691053.1:c.4696+16A>C	ENSP00000509168.1:n.4696+16A>C
ENST00000389506.10:c.4696+16A>C	ENSP00000374157.5:n.4696+16A>C
ENST00000534358.8:c.4696+16A>C MANE Select	ENSP00000436786.2:n.4696+16A>C
ENST00000649699.1:c.4582+16A>C	ENSP00000496927.1:n.4582+16A>C
ENST00000389506.9:c.4696+16A>C	ENSP00000374157.5:n.4696+16A>C
ENST00000392873.3:c.832+16A>C	ENSP00000376612.3:n.832+16A>C
ENST00000534358.5:c.4696+16A>C	ENSP00000436786.1:n.4696+16A>C
NM_001197104.1:c.4696+16A>C , LRG_613t1:c.4696+16A>C	NP_001184033.1:n.4696+16A>C
NM_005933.3:c.4696+16A>C	NP_005924.2:n.4696+16A>C
XM_006718839.2:c.2179+16A>C	XP_006718902.2:n.2179+16A>C
XM_011542829.1:c.4795+16A>C	XP_011541131.1:n.4795+16A>C
XM_011542830.1:c.4792+16A>C	XP_011541132.1:n.4792+16A>C
XM_011542831.1:c.4795+16A>C	XP_011541133.1:n.4795+16A>C
XM_011542832.1:c.2602+16A>C	XP_011541134.1:n.2602+16A>C
XM_011542833.1:c.2278+16A>C	XP_011541135.1:n.2278+16A>C
XM_006718839.3:c.2179+16A>C	XP_006718902.2:n.2179+16A>C
XM_011542829.2:c.4795+16A>C	XP_011541131.1:n.4795+16A>C
XM_011542830.2:c.4792+16A>C	XP_011541132.1:n.4792+16A>C
XM_011542831.2:c.4795+16A>C	XP_011541133.1:n.4795+16A>C
XM_011542833.2:c.2278+16A>C	XP_011541135.1:n.2278+16A>C
NM_001197104.2:c.4696+16A>C MANE Select	NP_001184033.1:n.4696+16A>C
NM_005933.4:c.4696+16A>C	NP_005924.2:n.4696+16A>C