Canonical Allele Identifier: CA016478

Gene: WT1

Linked Data

• ClinVar Variation Id: 135454
• ClinVar RCV Id: RCV000820466 ; RCV002498581
• dbSNP Id: rs587778756
• gnomAD v2: 11-32421515-G-T
• gnomAD v3: 11-32399969-G-T
• gnomAD v4: 11-32399969-G-T
• MyVariant Identifiers: chr11:g.32421515G>T (hg19) ; chr11:g.32399969G>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32399969G>T , CM000673.2:g.32399969G>T	GRCh38
NC_000011.9:g.32421515G>T , CM000673.1:g.32421515G>T	GRCh37
NC_000011.8:g.32378091G>T	NCBI36
NG_009272.1:g.40573C>A , LRG_525:g.40573C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332351.9:c.1041C>A	ENSP00000331327.5:p.His347Gln
ENST00000379077.9:c.*276C>A	ENSP00000368368.5:n.*276C>A
ENST00000379079.8:c.441C>A	ENSP00000368370.2:p.His147Gln
ENST00000448076.9:c.1092C>A	ENSP00000413452.5:p.His364Gln
ENST00000452863.10:c.1092C>A MANE Select	ENSP00000415516.5:p.His364Gln
ENST00000526685.2:n.546C>A
ENST00000639563.3:c.1041C>A	ENSP00000492269.3:p.His347Gln
ENST00000639907.2:n.235C>A
ENST00000640146.2:c.417C>A	ENSP00000491984.2:p.His139Gln
ENST00000651459.1:c.14C>A
ENST00000651794.1:n.835C>A
ENST00000652579.1:n.252C>A
ENST00000652724.1:n.282C>A
ENST00000332351.7:c.1077C>A	ENSP00000331327.3:p.His359Gln
ENST00000379077.7:c.*276C>A	ENSP00000368368.3:n.*276C>A
ENST00000379079.6:c.441C>A	ENSP00000368370.2:p.His147Gln
ENST00000448076.7:c.1077C>A	ENSP00000413452.3:p.His359Gln
ENST00000452863.7:c.1026C>A	ENSP00000415516.3:p.His342Gln
ENST00000526685.1:c.-97C>A	ENSP00000436292.1:n.-97C>A
ENST00000527775.1:c.330C>A	ENSP00000435351.1:p.His110Gln
ENST00000527882.5:c.148C>A
ENST00000530998.5:c.390C>A	ENSP00000435307.1:p.His130Gln
NM_000378.4:c.1026C>A	NP_000369.3:p.His342Gln
NM_001198551.1:c.441C>A , LRG_525t2:c.441C>A	NP_001185480.1:p.His147Gln
NM_001198552.1:c.390C>A	NP_001185481.1:p.His130Gln
NM_024424.3:c.1077C>A	NP_077742.2:p.His359Gln
NM_024426.4:c.1077C>A	NP_077744.3:p.His359Gln
NM_000378.5:c.1041C>A	NP_000369.4:p.His347Gln
NM_024424.4:c.1092C>A	NP_077742.3:p.His364Gln
NM_024426.5:c.1092C>A	NP_077744.4:p.His364Gln
NM_001367854.1:c.-97C>A	NP_001354783.1:n.-97C>A
NR_160306.1:n.1424C>A
NM_000378.6:c.1041C>A	NP_000369.4:p.His347Gln
NM_001198552.2:c.390C>A	NP_001185481.1:p.His130Gln
NM_024424.5:c.1092C>A	NP_077742.3:p.His364Gln
NM_024426.6:c.1092C>A MANE Select	NP_077744.4:p.His364Gln