Canonical Allele Identifier: CA477091616

Gene: KMT2A

Linked Data

• dbSNP Id: rs1555042379
• gnomAD v2: 11-118361924-T-C
• gnomAD v4: 11-118491209-T-C
• MyVariant Identifiers: chr11:g.118361924T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491209T>C , CM000673.2:g.118491209T>C	GRCh38
NC_000011.9:g.118361924T>C , CM000673.1:g.118361924T>C	GRCh37
NC_000011.8:g.117867134T>C	NCBI36
NG_027813.1:g.59720T>C , LRG_613:g.59720T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4809T>C	ENSP00000432391.3:p.Pro1603=
ENST00000710560.1:c.4809T>C	ENSP00000518343.1:p.Pro1603=
ENST00000685498.1:c.486T>C	ENSP00000509293.1:p.Pro162=
ENST00000691053.1:c.4710T>C	ENSP00000509168.1:p.Pro1570=
ENST00000389506.10:c.4710T>C	ENSP00000374157.5:p.Pro1570=
ENST00000534358.8:c.4710T>C MANE Select	ENSP00000436786.2:p.Pro1570=
ENST00000649699.1:c.4596T>C	ENSP00000496927.1:p.Pro1532=
ENST00000389506.9:c.4710T>C	ENSP00000374157.5:p.Pro1570=
ENST00000392873.3:c.846T>C	ENSP00000376612.3:p.Pro282=
ENST00000534358.5:c.4710T>C	ENSP00000436786.1:p.Pro1570=
NM_001197104.1:c.4710T>C , LRG_613t1:c.4710T>C	NP_001184033.1:p.Pro1570=
NM_005933.3:c.4710T>C	NP_005924.2:p.Pro1570=
XM_006718839.2:c.2193T>C	XP_006718902.2:p.Pro731=
XM_011542829.1:c.4809T>C	XP_011541131.1:p.Pro1603=
XM_011542830.1:c.4806T>C	XP_011541132.1:p.Pro1602=
XM_011542831.1:c.4809T>C	XP_011541133.1:p.Pro1603=
XM_011542832.1:c.2616T>C	XP_011541134.1:p.Pro872=
XM_011542833.1:c.2292T>C	XP_011541135.1:p.Pro764=
XM_006718839.3:c.2193T>C	XP_006718902.2:p.Pro731=
XM_011542829.2:c.4809T>C	XP_011541131.1:p.Pro1603=
XM_011542830.2:c.4806T>C	XP_011541132.1:p.Pro1602=
XM_011542831.2:c.4809T>C	XP_011541133.1:p.Pro1603=
XM_011542833.2:c.2292T>C	XP_011541135.1:p.Pro764=
NM_001197104.2:c.4710T>C MANE Select	NP_001184033.1:p.Pro1570=
NM_005933.4:c.4710T>C	NP_005924.2:p.Pro1570=