Canonical Allele Identifier: CA672347003

Gene: KMT2A

Linked Data

• dbSNP Id: rs1408464598
• gnomAD v4: 11-118480147-T-C
• MyVariant Identifiers: chr11:g.118480147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480147T>C , CM000673.2:g.118480147T>C	GRCh38
NC_000011.9:g.118350862T>C , CM000673.1:g.118350862T>C	GRCh37
NC_000011.8:g.117856072T>C	NCBI36
NG_027813.1:g.48658T>C , LRG_613:g.48658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3669-27T>C	ENSP00000432391.3:n.3669-27T>C
ENST00000710560.1:c.3669-27T>C	ENSP00000518343.1:n.3669-27T>C
ENST00000527869.7:c.1152-27T>C	ENSP00000432652.3:n.1152-27T>C
ENST00000533790.3:c.1053-27T>C	ENSP00000436700.3:n.1053-27T>C
ENST00000649690.2:c.1377-27T>C	ENSP00000497372.2:n.1377-27T>C
ENST00000685719.1:c.551-27T>C
ENST00000691053.1:c.3570-27T>C	ENSP00000509168.1:n.3570-27T>C
ENST00000389506.10:c.3570-27T>C	ENSP00000374157.5:n.3570-27T>C
ENST00000533790.2:c.822-27T>C	ENSP00000436700.2:n.822-27T>C
ENST00000534358.8:c.3570-27T>C MANE Select	ENSP00000436786.2:n.3570-27T>C
ENST00000648261.1:c.2340-27T>C	ENSP00000498126.1:n.2340-27T>C
ENST00000649699.1:c.3570-27T>C	ENSP00000496927.1:n.3570-27T>C
ENST00000389506.9:c.3570-27T>C	ENSP00000374157.5:n.3570-27T>C
ENST00000531904.6:c.3669-27T>C	ENSP00000432391.2:n.3669-27T>C
ENST00000534358.5:c.3570-27T>C	ENSP00000436786.1:n.3570-27T>C
NM_001197104.1:c.3570-27T>C , LRG_613t1:c.3570-27T>C	NP_001184033.1:n.3570-27T>C
NM_005933.3:c.3570-27T>C	NP_005924.2:n.3570-27T>C
XM_006718839.2:c.1053-27T>C	XP_006718902.2:n.1053-27T>C
XM_011542829.1:c.3669-27T>C	XP_011541131.1:n.3669-27T>C
XM_011542830.1:c.3669-27T>C	XP_011541132.1:n.3669-27T>C
XM_011542831.1:c.3669-27T>C	XP_011541133.1:n.3669-27T>C
XM_011542832.1:c.1476-27T>C	XP_011541134.1:n.1476-27T>C
XM_011542833.1:c.1152-27T>C	XP_011541135.1:n.1152-27T>C
XM_006718839.3:c.1053-27T>C	XP_006718902.2:n.1053-27T>C
XM_011542829.2:c.3669-27T>C	XP_011541131.1:n.3669-27T>C
XM_011542830.2:c.3669-27T>C	XP_011541132.1:n.3669-27T>C
XM_011542831.2:c.3669-27T>C	XP_011541133.1:n.3669-27T>C
XM_011542833.2:c.1152-27T>C	XP_011541135.1:n.1152-27T>C
NM_001197104.2:c.3570-27T>C MANE Select	NP_001184033.1:n.3570-27T>C
NM_005933.4:c.3570-27T>C	NP_005924.2:n.3570-27T>C