Canonical Allele Identifier: CA064112

Gene: WT1

Linked Data

• ClinVar Variation Id: 261708
• ClinVar RCV Id: RCV000248764 ; RCV000347096 ; RCV000390764 ; RCV000404002 ; RCV000456185 ; RCV000590636 ; RCV002244657 ; RCV002244656 ; RCV002294201 ; RCV003588603
• dbSNP Id: rs2234590
• ExAC: 11:32421533 T / C
• gnomAD v2: 11-32421533-T-C
• gnomAD v3: 11-32399987-T-C
• gnomAD v4: 11-32399987-T-C
• MyVariant Identifiers: chr11:g.32421533T>C (hg19) ; chr11:g.32399987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32399987T>C , CM000673.2:g.32399987T>C	GRCh38
NC_000011.9:g.32421533T>C , CM000673.1:g.32421533T>C	GRCh37
NC_000011.8:g.32378109T>C	NCBI36
NG_009272.1:g.40555A>G , LRG_525:g.40555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332351.9:c.1023A>G	ENSP00000331327.5:p.Gln341=
ENST00000379077.9:c.*258A>G	ENSP00000368368.5:n.*258A>G
ENST00000379079.8:c.423A>G	ENSP00000368370.2:p.Gln141=
ENST00000448076.9:c.1074A>G	ENSP00000413452.5:p.Gln358=
ENST00000452863.10:c.1074A>G MANE Select	ENSP00000415516.5:p.Gln358=
ENST00000526685.2:n.528A>G
ENST00000639563.3:c.1023A>G	ENSP00000492269.3:p.Gln341=
ENST00000639907.2:n.217A>G
ENST00000640146.2:c.399A>G	ENSP00000491984.2:p.Gln133=
ENST00000651794.1:n.817A>G
ENST00000652579.1:n.234A>G
ENST00000652724.1:n.264A>G
ENST00000332351.7:c.1059A>G	ENSP00000331327.3:p.Gln353=
ENST00000379077.7:c.*258A>G	ENSP00000368368.3:n.*258A>G
ENST00000379079.6:c.423A>G	ENSP00000368370.2:p.Gln141=
ENST00000448076.7:c.1059A>G	ENSP00000413452.3:p.Gln353=
ENST00000452863.7:c.1008A>G	ENSP00000415516.3:p.Gln336=
ENST00000526685.1:c.-115A>G	ENSP00000436292.1:n.-115A>G
ENST00000527775.1:c.312A>G	ENSP00000435351.1:p.Gln104=
ENST00000527882.5:c.130A>G
ENST00000530998.5:c.372A>G	ENSP00000435307.1:p.Gln124=
NM_000378.4:c.1008A>G	NP_000369.3:p.Gln336=
NM_001198551.1:c.423A>G , LRG_525t2:c.423A>G	NP_001185480.1:p.Gln141=
NM_001198552.1:c.372A>G	NP_001185481.1:p.Gln124=
NM_024424.3:c.1059A>G	NP_077742.2:p.Gln353=
NM_024426.4:c.1059A>G	NP_077744.3:p.Gln353=
NM_000378.5:c.1023A>G	NP_000369.4:p.Gln341=
NM_024424.4:c.1074A>G	NP_077742.3:p.Gln358=
NM_024426.5:c.1074A>G	NP_077744.4:p.Gln358=
NM_001367854.1:c.-115A>G	NP_001354783.1:n.-115A>G
NR_160306.1:n.1406A>G
NM_000378.6:c.1023A>G	NP_000369.4:p.Gln341=
NM_001198552.2:c.372A>G	NP_001185481.1:p.Gln124=
NM_024424.5:c.1074A>G	NP_077742.3:p.Gln358=
NM_024426.6:c.1074A>G MANE Select	NP_077744.4:p.Gln358=