Canonical Allele Identifier: CA357023
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223217
ClinVar RCV Id: RCV000208796
dbSNP Id: rs869025657
COSMIC: COSM26152
MyVariant Identifiers: chr3:g.10188321G>C (hg19) chr3:g.10146637G>C (hg38)
CIViC: CA357023
PCER: P-CER:CA357023/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146637G>C , CM000665.2:g.10146637G>C GRCh38
NC_000003.11:g.10188321G>C , CM000665.1:g.10188321G>C GRCh37
NC_000003.10:g.10163321G>C NCBI36
NG_008212.3:g.10003G>C , LRG_322:g.10003G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*140+1G>C ENSP00000512434.1:n.*140+1G>C
ENST00000696143.1:c.600-3150G>C ENSP00000512435.1:n.600-3150G>C
ENST00000696153.1:c.463+1G>C ENSP00000512444.1:n.463+1G>C
ENST00000256474.3:c.463+1G>C MANE Select ENSP00000256474.3:n.463+1G>C
ENST00000256474.2:c.463+1G>C ENSP00000256474.2:n.463+1G>C
ENST00000345392.2:c.341-3150G>C ENSP00000344757.2:n.341-3150G>C
ENST00000477538.1:n.599+1G>C
NM_000551.3:c.463+1G>C , LRG_322t1:c.463+1G>C NP_000542.1:n.463+1G>C
NM_198156.2:c.341-3150G>C NP_937799.1:n.341-3150G>C
NM_001354723.1:c.*18-3150G>C NP_001341652.1:n.*18-3150G>C
NM_000551.4:c.463+1G>C MANE Select NP_000542.1:n.463+1G>C
NM_001354723.2:c.*18-3150G>C NP_001341652.1:n.*18-3150G>C
NM_198156.3:c.341-3150G>C NP_937799.1:n.341-3150G>C
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