Canonical Allele Identifier: CA477359410

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118503305-T-C
• MyVariant Identifiers: chr11:g.118374020T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503305T>C , CM000673.2:g.118503305T>C	GRCh38
NC_000011.9:g.118374020T>C , CM000673.1:g.118374020T>C	GRCh37
NC_000011.8:g.117879230T>C	NCBI36
NG_027813.1:g.71816T>C , LRG_613:g.71816T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7512T>C	ENSP00000432391.3:p.Val2504=
ENST00000710560.1:c.7503T>C	ENSP00000518343.1:p.Val2501=
ENST00000649878.2:c.1452T>C	ENSP00000497891.2:p.Val484=
ENST00000685397.1:c.1452T>C	ENSP00000509586.1:p.Val484=
ENST00000686370.1:c.1452T>C	ENSP00000509179.1:p.Val484=
ENST00000689424.1:c.1710T>C	ENSP00000509852.1:p.Val570=
ENST00000691053.1:c.7485T>C	ENSP00000509168.1:p.Val2495=
ENST00000389506.10:c.7404T>C	ENSP00000374157.5:p.Val2468=
ENST00000528278.2:n.6755T>C
ENST00000534358.8:c.7413T>C MANE Select	ENSP00000436786.2:p.Val2471=
ENST00000649699.1:c.7290T>C	ENSP00000496927.1:p.Val2430=
ENST00000389506.9:c.7404T>C	ENSP00000374157.5:p.Val2468=
ENST00000528278.1:n.1540T>C
ENST00000534358.5:c.7413T>C	ENSP00000436786.1:p.Val2471=
NM_001197104.1:c.7413T>C , LRG_613t1:c.7413T>C	NP_001184033.1:p.Val2471=
NM_005933.3:c.7404T>C	NP_005924.2:p.Val2468=
XM_006718839.2:c.4896T>C	XP_006718902.2:p.Val1632=
XM_011542829.1:c.7512T>C	XP_011541131.1:p.Val2504=
XM_011542830.1:c.7509T>C	XP_011541132.1:p.Val2503=
XM_011542831.1:c.7503T>C	XP_011541133.1:p.Val2501=
XM_011542832.1:c.5319T>C	XP_011541134.1:p.Val1773=
XM_011542833.1:c.4995T>C	XP_011541135.1:p.Val1665=
XM_006718839.3:c.4896T>C	XP_006718902.2:p.Val1632=
XM_011542829.2:c.7512T>C	XP_011541131.1:p.Val2504=
XM_011542830.2:c.7509T>C	XP_011541132.1:p.Val2503=
XM_011542831.2:c.7503T>C	XP_011541133.1:p.Val2501=
XM_011542833.2:c.4995T>C	XP_011541135.1:p.Val1665=
NM_001197104.2:c.7413T>C MANE Select	NP_001184033.1:p.Val2471=
NM_005933.4:c.7404T>C	NP_005924.2:p.Val2468=