Canonical Allele Identifier: CA70041924
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1017376240
gnomAD v3: 3-10141735-G-C
gnomAD v4: 3-10141735-G-C
MyVariant Identifiers: chr3:g.10183419G>C (hg19) chr3:g.10141735G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141735G>C , CM000665.2:g.10141735G>C GRCh38
NC_000003.11:g.10183419G>C , CM000665.1:g.10183419G>C GRCh37
NC_000003.10:g.10158419G>C NCBI36
NG_008212.3:g.5101G>C , LRG_322:g.5101G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-113G>C ENSP00000256474.2:n.-113G>C
NM_000551.3:c.-113G>C , LRG_322t1:c.-113G>C NP_000542.1:n.-113G>C
NM_198156.2:c.-113G>C NP_937799.1:n.-113G>C
NM_001354723.1:c.-113G>C NP_001341652.1:n.-113G>C
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