Canonical Allele Identifier: CA432423286
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1461479062
COSMIC: COSM3724133
MyVariant Identifiers: chr3:g.10191508G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149824G>A , CM000665.2:g.10149824G>A GRCh38
NC_000003.11:g.10191508G>A , CM000665.1:g.10191508G>A GRCh37
NC_000003.10:g.10166508G>A NCBI36
NG_008212.3:g.13190G>A , LRG_322:g.13190G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*178G>A ENSP00000512434.1:n.*178G>A
ENST00000696143.1:c.637G>A ENSP00000512435.1:n.637G>A
ENST00000696153.1:c.612G>A ENSP00000512444.1:p.Arg204=
ENST00000256474.3:c.501G>A MANE Select ENSP00000256474.3:p.Arg167=
ENST00000256474.2:c.501G>A ENSP00000256474.2:p.Arg167=
ENST00000345392.2:c.378G>A ENSP00000344757.2:p.Arg126=
ENST00000477538.1:n.637G>A
NM_000551.3:c.501G>A , LRG_322t1:c.501G>A NP_000542.1:p.Arg167=
NM_198156.2:c.378G>A NP_937799.1:p.Arg126=
NM_001354723.1:c.*55G>A NP_001341652.1:n.*55G>A
NM_000551.4:c.501G>A MANE Select NP_000542.1:p.Arg167=
NM_001354723.2:c.*55G>A NP_001341652.1:n.*55G>A
NM_198156.3:c.378G>A NP_937799.1:p.Arg126=
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