Canonical Allele Identifier: CA379960070

Gene: WT1

Linked Data

• ClinVar Variation Id: 449416
• ClinVar RCV Id: RCV000523951 ; RCV000653779 ; RCV000709138 ; RCV000988515
• dbSNP Id: rs1423753702
• gnomAD v2: 11-32417947-G-A
• gnomAD v3: 11-32396401-G-A
• gnomAD v4: 11-32396401-G-A
• COSMIC: COSM21441 ; COSM2114546 ; COSM4191076
• MyVariant Identifiers: chr11:g.32417947G>A (hg19) ; chr11:g.32396401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32396401G>A , CM000673.2:g.32396401G>A	GRCh38
NC_000011.9:g.32417947G>A , CM000673.1:g.32417947G>A	GRCh37
NC_000011.8:g.32374523G>A	NCBI36
NG_009272.1:g.44141C>T , LRG_525:g.44141C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332351.9:c.1069C>T	ENSP00000331327.5:p.Arg357Ter
ENST00000379077.9:c.*304C>T	ENSP00000368368.5:n.*304C>T
ENST00000379079.8:c.469C>T	ENSP00000368370.2:p.Arg157Ter
ENST00000448076.9:c.1120C>T	ENSP00000413452.5:p.Arg374Ter
ENST00000452863.10:c.1120C>T MANE Select	ENSP00000415516.5:p.Arg374Ter
ENST00000526685.2:n.574C>T
ENST00000639563.3:c.1069C>T	ENSP00000492269.3:p.Arg357Ter
ENST00000639907.2:n.263C>T
ENST00000640146.2:c.445C>T	ENSP00000491984.2:p.Arg149Ter
ENST00000650861.1:n.1701C>T
ENST00000651459.1:c.35+3547C>T
ENST00000651668.1:n.57C>T
ENST00000651794.1:n.863C>T
ENST00000651819.1:n.45C>T
ENST00000652579.1:n.280C>T
ENST00000652724.1:n.310C>T
ENST00000332351.7:c.1105C>T	ENSP00000331327.3:p.Arg369Ter
ENST00000379077.7:c.*304C>T	ENSP00000368368.3:n.*304C>T
ENST00000379079.6:c.469C>T	ENSP00000368370.2:p.Arg157Ter
ENST00000448076.7:c.1105C>T	ENSP00000413452.3:p.Arg369Ter
ENST00000452863.7:c.1054C>T	ENSP00000415516.3:p.Arg352Ter
ENST00000526685.1:c.-69C>T	ENSP00000436292.1:n.-69C>T
ENST00000527775.1:c.358C>T	ENSP00000435351.1:p.Arg120Ter
ENST00000527882.5:c.176C>T
ENST00000530998.5:c.418C>T	ENSP00000435307.1:p.Arg140Ter
NM_000378.4:c.1054C>T	NP_000369.3:p.Arg352Ter
NM_001198551.1:c.469C>T , LRG_525t2:c.469C>T	NP_001185480.1:p.Arg157Ter
NM_001198552.1:c.418C>T	NP_001185481.1:p.Arg140Ter
NM_024424.3:c.1105C>T	NP_077742.2:p.Arg369Ter
NM_024426.4:c.1105C>T	NP_077744.3:p.Arg369Ter
NM_000378.5:c.1069C>T	NP_000369.4:p.Arg357Ter
NM_024424.4:c.1120C>T	NP_077742.3:p.Arg374Ter
NM_024426.5:c.1120C>T	NP_077744.4:p.Arg374Ter
NM_001367854.1:c.-69C>T	NP_001354783.1:n.-69C>T
NR_160306.1:n.1452C>T
NM_000378.6:c.1069C>T	NP_000369.4:p.Arg357Ter
NM_001198552.2:c.418C>T	NP_001185481.1:p.Arg140Ter
NM_024424.5:c.1120C>T	NP_077742.3:p.Arg374Ter
NM_024426.6:c.1120C>T MANE Select	NP_077744.4:p.Arg374Ter