Canonical Allele Identifier: CA351756724
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 625270
ClinVar RCV Id: RCV000767299
dbSNP Id: rs1559430011
COSMIC: COSM144977
MyVariant Identifiers: chr3:g.10191649A>T (hg19) chr3:g.10149965A>T (hg38)
CIViC: CA351756724
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149965A>T , CM000665.2:g.10149965A>T GRCh38
NC_000003.11:g.10191649A>T , CM000665.1:g.10191649A>T GRCh37
NC_000003.10:g.10166649A>T NCBI36
NG_008212.3:g.13331A>T , LRG_322:g.13331A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*319A>T ENSP00000512434.1:n.*319A>T
ENST00000696143.1:c.778A>T ENSP00000512435.1:n.778A>T
ENST00000696153.1:c.753A>T ENSP00000512444.1:p.Ter251Cys
ENST00000256474.3:c.642A>T MANE Select ENSP00000256474.3:p.Ter214Cys
ENST00000256474.2:c.642A>T ENSP00000256474.2:p.Ter214Cys
ENST00000345392.2:c.519A>T ENSP00000344757.2:p.Ter173Cys
ENST00000477538.1:n.778A>T
NM_000551.3:c.642A>T , LRG_322t1:c.642A>T NP_000542.1:p.Ter214Cys
NM_198156.2:c.519A>T NP_937799.1:p.Ter173Cys
NM_001354723.1:c.*196A>T NP_001341652.1:n.*196A>T
NM_000551.4:c.642A>T MANE Select NP_000542.1:p.Ter214Cys
NM_001354723.2:c.*196A>T NP_001341652.1:n.*196A>T
NM_198156.3:c.519A>T NP_937799.1:p.Ter173Cys
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