Canonical Allele Identifier: CA2702126350
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125130361
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149732T>A , CM000665.2:g.10149732T>A GRCh38
NC_000003.11:g.10191416T>A , CM000665.1:g.10191416T>A GRCh37
NC_000003.10:g.10166416T>A NCBI36
NG_008212.3:g.13098T>A , LRG_322:g.13098T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*141-55T>A ENSP00000512434.1:n.*141-55T>A
ENST00000696143.1:c.600-55T>A ENSP00000512435.1:n.600-55T>A
ENST00000696153.1:c.575-55T>A ENSP00000512444.1:n.575-55T>A
ENST00000256474.3:c.464-55T>A MANE Select ENSP00000256474.3:n.464-55T>A
ENST00000256474.2:c.464-55T>A ENSP00000256474.2:n.464-55T>A
ENST00000345392.2:c.341-55T>A ENSP00000344757.2:n.341-55T>A
ENST00000477538.1:n.600-55T>A
NM_000551.3:c.464-55T>A , LRG_322t1:c.464-55T>A NP_000542.1:n.464-55T>A
NM_198156.2:c.341-55T>A NP_937799.1:n.341-55T>A
NM_001354723.1:c.*18-55T>A NP_001341652.1:n.*18-55T>A
NM_000551.4:c.464-55T>A MANE Select NP_000542.1:n.464-55T>A
NM_001354723.2:c.*18-55T>A NP_001341652.1:n.*18-55T>A
NM_198156.3:c.341-55T>A NP_937799.1:n.341-55T>A
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