Canonical Allele Identifier: CA041601
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223232
ClinVar RCV Id: RCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397
dbSNP Id: rs561874453
ExAC: 3:10191561 A / G
gnomAD v2: 3-10191561-A-G
gnomAD v3: 3-10149877-A-G
gnomAD v4: 3-10149877-A-G
MyVariant Identifiers: chr3:g.10191561A>G (hg19) chr3:g.10149877A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149877A>G , CM000665.2:g.10149877A>G GRCh38
NC_000003.11:g.10191561A>G , CM000665.1:g.10191561A>G GRCh37
NC_000003.10:g.10166561A>G NCBI36
NG_008212.3:g.13243A>G , LRG_322:g.13243A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*231A>G ENSP00000512434.1:n.*231A>G
ENST00000696143.1:c.690A>G ENSP00000512435.1:n.690A>G
ENST00000696153.1:c.665A>G ENSP00000512444.1:p.Tyr222Cys
ENST00000256474.3:c.554A>G MANE Select ENSP00000256474.3:p.Tyr185Cys
ENST00000256474.2:c.554A>G ENSP00000256474.2:p.Tyr185Cys
ENST00000345392.2:c.431A>G ENSP00000344757.2:p.Tyr144Cys
ENST00000477538.1:n.690A>G
NM_000551.3:c.554A>G , LRG_322t1:c.554A>G NP_000542.1:p.Tyr185Cys
NM_198156.2:c.431A>G NP_937799.1:p.Tyr144Cys
NM_001354723.1:c.*108A>G NP_001341652.1:n.*108A>G
NM_000551.4:c.554A>G MANE Select NP_000542.1:p.Tyr185Cys
NM_001354723.2:c.*108A>G NP_001341652.1:n.*108A>G
NM_198156.3:c.431A>G NP_937799.1:p.Tyr144Cys
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