Canonical Allele Identifier: CA6303943

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1944019
• ClinVar RCV Id: RCV002650737 ; RCV002671007
• dbSNP Id: rs139123379
• ExAC: 11:118362021 T / C
• gnomAD v2: 11-118362021-T-C
• gnomAD v3: 11-118491306-T-C
• gnomAD v4: 11-118491306-T-C
• MyVariant Identifiers: chr11:g.118362021T>C (hg19) ; chr11:g.118491306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491306T>C , CM000673.2:g.118491306T>C	GRCh38
NC_000011.9:g.118362021T>C , CM000673.1:g.118362021T>C	GRCh37
NC_000011.8:g.117867231T>C	NCBI36
NG_027813.1:g.59817T>C , LRG_613:g.59817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4906T>C	ENSP00000432391.3:p.Ser1636Pro
ENST00000710560.1:c.4906T>C	ENSP00000518343.1:p.Ser1636Pro
ENST00000685498.1:c.583T>C	ENSP00000509293.1:p.Ser195Pro
ENST00000691053.1:c.4807T>C	ENSP00000509168.1:p.Ser1603Pro
ENST00000389506.10:c.4807T>C	ENSP00000374157.5:p.Ser1603Pro
ENST00000534358.8:c.4807T>C MANE Select	ENSP00000436786.2:p.Ser1603Pro
ENST00000649699.1:c.4693T>C	ENSP00000496927.1:p.Ser1565Pro
ENST00000389506.9:c.4807T>C	ENSP00000374157.5:p.Ser1603Pro
ENST00000392873.3:c.943T>C	ENSP00000376612.3:p.Ser315Pro
ENST00000534358.5:c.4807T>C	ENSP00000436786.1:p.Ser1603Pro
NM_001197104.1:c.4807T>C , LRG_613t1:c.4807T>C	NP_001184033.1:p.Ser1603Pro
NM_005933.3:c.4807T>C	NP_005924.2:p.Ser1603Pro
XM_006718839.2:c.2290T>C	XP_006718902.2:p.Ser764Pro
XM_011542829.1:c.4906T>C	XP_011541131.1:p.Ser1636Pro
XM_011542830.1:c.4903T>C	XP_011541132.1:p.Ser1635Pro
XM_011542831.1:c.4906T>C	XP_011541133.1:p.Ser1636Pro
XM_011542832.1:c.2713T>C	XP_011541134.1:p.Ser905Pro
XM_011542833.1:c.2389T>C	XP_011541135.1:p.Ser797Pro
XM_006718839.3:c.2290T>C	XP_006718902.2:p.Ser764Pro
XM_011542829.2:c.4906T>C	XP_011541131.1:p.Ser1636Pro
XM_011542830.2:c.4903T>C	XP_011541132.1:p.Ser1635Pro
XM_011542831.2:c.4906T>C	XP_011541133.1:p.Ser1636Pro
XM_011542833.2:c.2389T>C	XP_011541135.1:p.Ser797Pro
NM_001197104.2:c.4807T>C MANE Select	NP_001184033.1:p.Ser1603Pro
NM_005933.4:c.4807T>C	NP_005924.2:p.Ser1603Pro