Canonical Allele Identifier: CA16621936
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 569414
ClinVar RCV Id: RCV000690034 RCV000786844
dbSNP Id: rs5030814
COSMIC: COSM18132
MyVariant Identifiers: chr3:g.10188322T>C (hg19) chr3:g.10146638T>C (hg38)
MutSpliceDB: CA16621936
CIViC: CA16621936
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146638T>C , CM000665.2:g.10146638T>C GRCh38
NC_000003.11:g.10188322T>C , CM000665.1:g.10188322T>C GRCh37
NC_000003.10:g.10163322T>C NCBI36
NG_008212.3:g.10004T>C , LRG_322:g.10004T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*140+2T>C ENSP00000512434.1:n.*140+2T>C
ENST00000696143.1:c.600-3149T>C ENSP00000512435.1:n.600-3149T>C
ENST00000696153.1:c.463+2T>C ENSP00000512444.1:n.463+2T>C
ENST00000256474.3:c.463+2T>C MANE Select ENSP00000256474.3:n.463+2T>C
ENST00000256474.2:c.463+2T>C ENSP00000256474.2:n.463+2T>C
ENST00000345392.2:c.341-3149T>C ENSP00000344757.2:n.341-3149T>C
ENST00000477538.1:n.599+2T>C
NM_000551.3:c.463+2T>C , LRG_322t1:c.463+2T>C NP_000542.1:n.463+2T>C
NM_198156.2:c.341-3149T>C NP_937799.1:n.341-3149T>C
NM_001354723.1:c.*18-3149T>C NP_001341652.1:n.*18-3149T>C
NM_000551.4:c.463+2T>C MANE Select NP_000542.1:n.463+2T>C
NM_001354723.2:c.*18-3149T>C NP_001341652.1:n.*18-3149T>C
NM_198156.3:c.341-3149T>C NP_937799.1:n.341-3149T>C
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