Canonical Allele Identifier: CA016338

Gene: WT1

Linked Data

• ClinVar Variation Id: 3490
• ClinVar RCV Id: RCV000003661 ; RCV000003662
• dbSNP Id: rs28941778
• gnomAD: 11:32413560 C / T
• COSMIC: COSM27370 ; COSM1353484 ; COSM5487180
• MyVariant Identifiers: chr11:g.32413560C>T (hg19) ; chr11:g.32392014C>T (hg38)
• PubMed: PMID:1338906 ; PMID:1655284 ; PMID:9090524 ; PMID:9529364

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32392014C>T , CM000673.2:g.32392014C>T	GRCh38
NC_000011.9:g.32413560C>T , CM000673.1:g.32413560C>T	GRCh37
NC_000011.8:g.32370136C>T	NCBI36
NG_009272.1:g.48528G>A , LRG_525:g.48528G>A

Transcript Alleles

HGVS	Amino-acid change
NM_000378.4:c.1339G>A	NP_000369.3:p.Asp447Asn
NM_001198551.1:c.754G>A , LRG_525t2:c.754G>A	NP_001185480.1:p.Asp252Asn
NM_001198552.1:c.703G>A	NP_001185481.1:p.Asp235Asn
NM_024424.3:c.1390G>A	NP_077742.2:p.Asp464Asn
NM_024426.4:c.1390G>A	NP_077744.3:p.Asp464Asn
NM_000378.5:c.1354G>A	NP_000369.4:p.Asp452Asn
NM_024424.4:c.1405G>A	NP_077742.3:p.Asp469Asn
NM_024426.5:c.1405G>A	NP_077744.4:p.Asp469Asn
NM_001367854.1:c.217G>A	NP_001354783.1:p.Asp73Asn
NR_160306.1:n.1737G>A
NM_000378.6:c.1354G>A	NP_000369.4:p.Asp452Asn
NM_001198552.2:c.703G>A	NP_001185481.1:p.Asp235Asn
NM_024424.5:c.1405G>A	NP_077742.3:p.Asp469Asn
NM_024426.6:c.1405G>A	NP_077744.4:p.Asp469Asn
ENST00000332351.7:c.1390G>A	ENSP00000331327.3:p.Asp464Asn
ENST00000379077.7:c.*589G>A	ENSP00000368368.3:p.=
ENST00000379079.6:c.754G>A	ENSP00000368370.2:p.Asp252Asn
ENST00000448076.7:c.1390G>A	ENSP00000413452.3:p.Asp464Asn
ENST00000452863.7:n.1339G>A	ENSP00000415516.3:p.Asp447Asn
ENST00000527882.5:n.371G>A
ENST00000530998.5:c.703G>A	ENSP00000435307.1:p.Asp235Asn