Canonical Allele Identifier: CA70041942
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1020607661
gnomAD v4: 3-10141756-A-C
MyVariant Identifiers: chr3:g.10183440A>C (hg19) chr3:g.10141756A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141756A>C , CM000665.2:g.10141756A>C GRCh38
NC_000003.11:g.10183440A>C , CM000665.1:g.10183440A>C GRCh37
NC_000003.10:g.10158440A>C NCBI36
NG_008212.3:g.5122A>C , LRG_322:g.5122A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-92A>C ENSP00000256474.2:n.-92A>C
NM_000551.3:c.-92A>C , LRG_322t1:c.-92A>C NP_000542.1:n.-92A>C
NM_198156.2:c.-92A>C NP_937799.1:n.-92A>C
NM_001354723.1:c.-92A>C NP_001341652.1:n.-92A>C
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