Canonical Allele Identifier: CA357066
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223213
ClinVar RCV Id: RCV002327073
dbSNP Id: rs587780077
COSMIC: COSM1417319
MyVariant Identifiers: chr3:g.10188302G>A (hg19) chr3:g.10146618G>A (hg38)
CIViC: CA357066
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146618G>A , CM000665.2:g.10146618G>A GRCh38
NC_000003.11:g.10188302G>A , CM000665.1:g.10188302G>A GRCh37
NC_000003.10:g.10163302G>A NCBI36
NG_008212.3:g.9984G>A , LRG_322:g.9984G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*122G>A ENSP00000512434.1:n.*122G>A
ENST00000696143.1:c.600-3169G>A ENSP00000512435.1:n.600-3169G>A
ENST00000696153.1:c.445G>A ENSP00000512444.1:p.Ala149Thr
ENST00000256474.3:c.445G>A MANE Select ENSP00000256474.3:p.Ala149Thr
ENST00000256474.2:c.445G>A ENSP00000256474.2:p.Ala149Thr
ENST00000345392.2:c.341-3169G>A ENSP00000344757.2:n.341-3169G>A
ENST00000477538.1:n.581G>A
NM_000551.3:c.445G>A , LRG_322t1:c.445G>A NP_000542.1:p.Ala149Thr
NM_198156.2:c.341-3169G>A NP_937799.1:n.341-3169G>A
NM_001354723.1:c.*18-3169G>A NP_001341652.1:n.*18-3169G>A
NM_000551.4:c.445G>A MANE Select NP_000542.1:p.Ala149Thr
NM_001354723.2:c.*18-3169G>A NP_001341652.1:n.*18-3169G>A
NM_198156.3:c.341-3169G>A NP_937799.1:n.341-3169G>A
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