Canonical Allele Identifier: CA382805098

Gene: KMT2A

Linked Data

• dbSNP Id: rs1950529667
• gnomAD v4: 11-118503212-C-G
• MyVariant Identifiers: chr11:g.118373927C>G (hg19) ; chr11:g.118503212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503212C>G , CM000673.2:g.118503212C>G	GRCh38
NC_000011.9:g.118373927C>G , CM000673.1:g.118373927C>G	GRCh37
NC_000011.8:g.117879137C>G	NCBI36
NG_027813.1:g.71723C>G , LRG_613:g.71723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7419C>G	ENSP00000432391.3:p.Phe2473Leu
ENST00000710560.1:c.7410C>G	ENSP00000518343.1:p.Phe2470Leu
ENST00000649878.2:c.1359C>G	ENSP00000497891.2:p.Phe453Leu
ENST00000685397.1:c.1359C>G	ENSP00000509586.1:p.Phe453Leu
ENST00000686370.1:c.1359C>G	ENSP00000509179.1:p.Phe453Leu
ENST00000689424.1:c.1617C>G	ENSP00000509852.1:p.Phe539Leu
ENST00000691053.1:c.7392C>G	ENSP00000509168.1:p.Phe2464Leu
ENST00000389506.10:c.7311C>G	ENSP00000374157.5:p.Phe2437Leu
ENST00000528278.2:n.6662C>G
ENST00000534358.8:c.7320C>G MANE Select	ENSP00000436786.2:p.Phe2440Leu
ENST00000649699.1:c.7197C>G	ENSP00000496927.1:p.Phe2399Leu
ENST00000389506.9:c.7311C>G	ENSP00000374157.5:p.Phe2437Leu
ENST00000528278.1:n.1447C>G
ENST00000534358.5:c.7320C>G	ENSP00000436786.1:p.Phe2440Leu
NM_001197104.1:c.7320C>G , LRG_613t1:c.7320C>G	NP_001184033.1:p.Phe2440Leu
NM_005933.3:c.7311C>G	NP_005924.2:p.Phe2437Leu
XM_006718839.2:c.4803C>G	XP_006718902.2:p.Phe1601Leu
XM_011542829.1:c.7419C>G	XP_011541131.1:p.Phe2473Leu
XM_011542830.1:c.7416C>G	XP_011541132.1:p.Phe2472Leu
XM_011542831.1:c.7410C>G	XP_011541133.1:p.Phe2470Leu
XM_011542832.1:c.5226C>G	XP_011541134.1:p.Phe1742Leu
XM_011542833.1:c.4902C>G	XP_011541135.1:p.Phe1634Leu
XM_006718839.3:c.4803C>G	XP_006718902.2:p.Phe1601Leu
XM_011542829.2:c.7419C>G	XP_011541131.1:p.Phe2473Leu
XM_011542830.2:c.7416C>G	XP_011541132.1:p.Phe2472Leu
XM_011542831.2:c.7410C>G	XP_011541133.1:p.Phe2470Leu
XM_011542833.2:c.4902C>G	XP_011541135.1:p.Phe1634Leu
NM_001197104.2:c.7320C>G MANE Select	NP_001184033.1:p.Phe2440Leu
NM_005933.4:c.7311C>G	NP_005924.2:p.Phe2437Leu