Canonical Allele Identifier: CA016324

Gene: WT1

Linked Data

• ClinVar Variation Id: 3487
• ClinVar RCV Id: RCV000003656 ; RCV000003658 ; RCV000003657 ; RCV000467701 ; RCV000484426 ; RCV001003819 ; RCV001290016 ; RCV002293973 ; RCV002482821
• dbSNP Id: rs121907900
• COSMIC: COSM21417 ; COSM1317333 ; COSM5487510
• MyVariant Identifiers: chr11:g.32413566G>A (hg19) ; chr11:g.32392020G>A (hg38)
• PubMed: PMID:1302008 ; PMID:1327525 ; PMID:1338906 ; PMID:1655284 ; PMID:6307071 ; PMID:7795587 ; PMID:8295405 ; PMID:9090524 ; PMID:9607189 ; PMID:10470095 ; PMID:10505700 ; PMID:11182928 ; PMID:12970737 ; PMID:15150775 ; PMID:15509792 ; PMID:17496156 ; PMID:17541636 ; PMID:17853480 ; PMID:23497137 ; PMID:23715653 ; PMID:23935527 ; PMID:25501161 ; PMID:25818337 ; PMID:26069768 ; PMID:27013732 ; PMID:27899157 ; PMID:28204945

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32392020G>A , CM000673.2:g.32392020G>A	GRCh38
NC_000011.9:g.32413566G>A , CM000673.1:g.32413566G>A	GRCh37
NC_000011.8:g.32370142G>A	NCBI36
NG_009272.1:g.48522C>T , LRG_525:g.48522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332351.9:c.1348C>T	ENSP00000331327.5:p.Arg450Trp
ENST00000379077.9:c.*583C>T	ENSP00000368368.5:n.*583C>T
ENST00000379079.8:c.748C>T	ENSP00000368370.2:p.Arg250Trp
ENST00000448076.9:c.1399C>T	ENSP00000413452.5:p.Arg467Trp
ENST00000452863.10:c.1399C>T MANE Select	ENSP00000415516.5:p.Arg467Trp
ENST00000526685.2:n.853C>T
ENST00000639563.3:c.1348C>T	ENSP00000492269.3:p.Arg450Trp
ENST00000639907.2:n.542C>T
ENST00000640146.2:c.724C>T	ENSP00000491984.2:p.Arg242Trp
ENST00000650745.1:n.1209C>T
ENST00000650861.1:n.1980C>T
ENST00000650986.1:n.62C>T
ENST00000651459.1:c.170C>T
ENST00000651533.1:n.445C>T
ENST00000651668.1:n.336C>T
ENST00000651794.1:n.1242C>T
ENST00000651819.1:n.324C>T
ENST00000652579.1:n.659C>T
ENST00000652724.1:n.589C>T
ENST00000332351.7:c.1384C>T	ENSP00000331327.3:p.Arg462Trp
ENST00000379077.7:c.*583C>T	ENSP00000368368.3:n.*583C>T
ENST00000379079.6:c.748C>T	ENSP00000368370.2:p.Arg250Trp
ENST00000448076.7:c.1384C>T	ENSP00000413452.3:p.Arg462Trp
ENST00000452863.7:c.1333C>T	ENSP00000415516.3:p.Arg445Trp
ENST00000527882.5:c.365C>T
ENST00000530998.5:c.697C>T	ENSP00000435307.1:p.Arg233Trp
NM_000378.4:c.1333C>T	NP_000369.3:p.Arg445Trp
NM_001198551.1:c.748C>T , LRG_525t2:c.748C>T	NP_001185480.1:p.Arg250Trp
NM_001198552.1:c.697C>T	NP_001185481.1:p.Arg233Trp
NM_024424.3:c.1384C>T	NP_077742.2:p.Arg462Trp
NM_024426.4:c.1384C>T	NP_077744.3:p.Arg462Trp
NM_000378.5:c.1348C>T	NP_000369.4:p.Arg450Trp
NM_024424.4:c.1399C>T	NP_077742.3:p.Arg467Trp
NM_024426.5:c.1399C>T	NP_077744.4:p.Arg467Trp
NM_001367854.1:c.211C>T	NP_001354783.1:p.Arg71Trp
NR_160306.1:n.1731C>T
NM_000378.6:c.1348C>T	NP_000369.4:p.Arg450Trp
NM_001198552.2:c.697C>T	NP_001185481.1:p.Arg233Trp
NM_024424.5:c.1399C>T	NP_077742.3:p.Arg467Trp
NM_024426.6:c.1399C>T MANE Select	NP_077744.4:p.Arg467Trp